Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2829705918

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 630636

ClinVar RCV Id: RCV000776573

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Gly1492Ser	CA10592714 NM_007300.4:c.4474G>A