Allele Registry

Canonical Allele Identifier: PA113251

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000592368

RCV001249091

ClinVar Variation:

497033

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Gly377Arg	CA8815180 NM_000152.5:c.1129G>C