Allele Registry

Canonical Allele Identifier: PA2825459615

Gene: GAA HGNC NCBI

ClinVar Allele:

531911

ClinVar RCV:

RCV000631091

RCV002292572

ClinVar Variation:

526540

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Arg40Gln	CA8814792 NM_001079803.3:c.119G>A