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: PA2829694413

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55158

ClinVar RCV Id: RCV000496336

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.His1374Leu	CA002741 NM_007297.4:c.4121A>T