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: PA916026490

Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1962

ClinVar RCV Id: RCV000002039 RCV000059096 RCV000482569

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308980.1:p.Arg76Trp	CA115279 NM_001322051.2:c.226C>T