Allele Registry

Canonical Allele Identifier: PA915964383

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000817672

RCV003132095

ClinVar Variation:

660473

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Arg229His	CA8814963 NM_001079804.3:c.686G>A