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: PA2825461773

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 972746

ClinVar RCV Id: RCV001248865 RCV001780189

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Pro522Ser	CA294895008 NM_001079803.3:c.1564C>T