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: PA916012760

Gene: ADA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 120305

ClinVar RCV Id: RCV000106386 RCV001781437

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269155.1:p.Pro251Leu	CA150812 NM_001282226.2:c.752C>T