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: PA2829678126

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3134927

ClinVar RCV Id: RCV004434261

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Cys360Tyr	CA10599902 NM_007294.4:c.1079G>A