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.
clinvar
Local identifiers in ClinVar Variation should match this
regular expression:
^\d+$
Compact URIs (CURIEs) constructed from ClinVar Variation should match
this regular expression:
^clinvar:\d+$
A summary of the relations in the Bioregistry schema can be found here.
bfo:0000051
)
The metaregistry provides mappings between the Bioregistry and other registries. There are 11 mappings to external registries for this resource with 7 unique external prefixes.
Registry Name | Registry Metaprefix | External Prefix | Curate |
---|---|---|---|
BioContext | biocontext |
ClinVarVariant
|
|
Biolink | biolink |
CLINVAR
|
|
Cellosaurus | cellosaurus |
ClinVar
|
|
FAIRSharing | fairsharing |
FAIRsharing.wx5r6f
|
|
HL7 | hl7 |
2.16.840.1.113883.6.319
|
|
Integbio | integbio |
nbdc01514
|
|
Identifiers.org | miriam |
clinvar
|
|
N2T | n2t |
clinvar
|
|
re3data | re3data |
r3d100013331
|
|
TogoID | togoid |
Clinvar
|
|
Wikidata | wikidata |
P1929
|
A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).
The local unique identifier 12345
is used to demonstrate the providers
available for ClinVar Variation. A guide for curating additional providers can be found
here.
Name | Metaprefix | URI |
---|---|---|
ClinVar Variation | clinvar |
https://www.ncbi.nlm.nih.gov/clinvar/variation/12345 |
Bioregistry | bioregistry |
https://bioregistry.io/clinvar:12345 |
Identifiers.org | miriam |
https://identifiers.org/clinvar:12345 |
Name-to-Thing | n2t |
https://n2t.net/clinvar:12345 |