Data collection: ClinVar Variant

General information

Recommended name ClinVar Variant
Description ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters. Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references the Variant identifier.
Identifier pattern^\d+$
Registry identifierMIR:00000596

Identification schemes

Namespace clinvar
URI http://identifiers.org/clinvar/
Alternative URI schemes  

Physical locations (resources)

Resource
MIR:00100796
Description ClinVar Variant at NCBI
Access URLs HTML   (using the example identifier: 12345)
Institution National Center for Biotechnology Information (NCBI), NIH, Maryland, USA
Website http://www.ncbi.nlm.nih.gov/clinvar/

References