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Description:
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ClinVar Variant ID
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Information:
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ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard.
The ClinVar records have a field for Allele ID and for Variant ID. All simple variants have an Allele ID. At present, all complex and most simple variants also have a Variant ID, and by the end of 2016, all variants will have a variant ID. This coding system uses the variant ID as the code and the variant name ( field TBD) from the "variant_summary" file as the code print string. The "variant_summary" file caries more than 20 fields , including the seperate components of the variant nane, the cytogenomic locatiaon, the genomic reference etc. Many of these attributes have been indexed to assist users and applications that need to find the ID for a particular variant.
Automatically extracted from Health Level 7 (HL7) OID Registry.
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