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: PA2829694561

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662999

ClinVar RCV Id: RCV000820775

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Asn1397Ile	CA10593061 NM_007297.4:c.4190A>T