Allele Registry

Canonical Allele Identifier: PA915964384

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000194005

RCV000542661

RCV000724048

RCV002362904

ClinVar Variation:

196222

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Val230Met	CA207869 NM_001079804.3:c.688G>A