Allele Registry

Canonical Allele Identifier: PA113636

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000535983

RCV001783029

ClinVar Variation:

456370

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Pro397Leu	CA8815197 NM_000152.5:c.1190C>T