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: PA915992440

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185124

ClinVar RCV Id: RCV000164491 RCV001077314 RCV002515141 RCV001355404

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Thr695Ile	CA003548 NM_007298.3:c.2084C>T