Allele Registry

Canonical Allele Identifier: PA2825065135

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV001360975

RCV001773716

ClinVar Variation:

1052736

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Glu192Lys	CA401362134 NM_000152.5:c.574G>A