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: PA2579983343

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 869004

ClinVar RCV Id: RCV001078025 RCV002555930

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Ser1841Ile	CA10590274 NM_007294.4:c.5522G>T