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: PA658667358

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 462631

ClinVar RCV Id: RCV000532340 RCV003157708

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Gly1350Val	CA10593862 NM_007294.4:c.4049G>T