Allele Registry

Canonical Allele Identifier: PA2825461750

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV001233657

RCV001507902

ClinVar Variation:

960182

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Asp513Asn	CA8815361 NM_001079803.3:c.1537G>A