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: PA915993130

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41824

ClinVar RCV Id: RCV000034750 RCV000215471 RCV001852698

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009230.2:p.Leu368Phe	CA002840 NM_007299.4:c.1102C>T