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: PA2829693392

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519354

ClinVar RCV Id: RCV002024551 RCV002346313 RCV004011160

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Lys1207Asn	CA10594450 NM_007297.4:c.3621G>T CA10594451 NM_007297.4:c.3621G>C