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: PA2825462775

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 938987

ClinVar RCV Id: RCV001208306

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Thr739Ala	CA8815658 NM_001079803.3:c.2215A>G