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: PA2573059498

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38008

ClinVar RCV Id: RCV000031589 RCV000228606 RCV000583874

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Ser1970Leu	CA023364 NM_000059.4:c.5909C>T