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 Record Report, based on RCV accession.

Prefix
clinvar.record
Links
Homepage
Contact
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ClinVar Record should match this regular expression:
^RCV\d+(\.\d+)?$

Example Local Unique Identifier
RCV000033555.3   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Record should match this regular expression:
^clinvar\.record:RCV\d+(\.\d+)?$

Example CURIE
clinvar.record:RCV000033555.3
Metaregistry ClinVar Record

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for clinvar.record.

Registry Name Metaprefix External Prefix
BioContext biocontext CLINVAR.RECORD
Identifiers.org Identifiers.org logo miriam clinvar.record
Name-to-Thing Name-to-Thing logo n2t clinvar.record
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE clinvar.record:RCV000033555.3 is used to demonstrate the provides available for clinvar.record. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
ClinVar Record clinvar.record http://www.ncbi.nlm.nih.gov/clinvar/RCV000033555.3
Bioregistry bioregistry https://bioregistry.io/clinvar.record:RCV000033555.3
Identifiers.org miriam https://identifiers.org/clinvar.record:RCV000033555.3
Name-to-Thing n2t https://n2t.net/clinvar.record:RCV000033555.3