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: PA2829706909

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 865434

ClinVar RCV Id: RCV001072854

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Val542Gly	CA10591649 NM_007298.3:c.1625T>G