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: PA2579757911

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868045

ClinVar RCV Id: RCV001076863

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Phe1798Cys	CA10590689 NM_007294.4:c.5393T>G