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: PA169410

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55541

ClinVar RCV Id: RCV000048948 RCV000112624 RCV000132201 RCV000236823

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Leu1780Pro	CA003508 NM_007294.4:c.5339T>C