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: PA2829688319

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2691999

ClinVar RCV Id: RCV003494196

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Thr320Ser	CA10599857 NM_007297.4:c.959C>G CA10599859 NM_007297.4:c.958A>T