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: PA2829706436

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 433716

ClinVar RCV Id: RCV000504104 RCV000532651 RCV000735520 RCV000776618 RCV000758836 RCV000765359 RCV003330731 RCV004003514

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Tyr448His	CA10592205 NM_007298.3:c.1342T>C