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: PA2829698039

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 865695

ClinVar RCV Id: RCV001073162

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Phe1751Tyr	CA10590691 NM_007297.4:c.5252T>A