Allele Registry

Canonical Allele Identifier: PA2499237133

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV001360975

RCV001773716

ClinVar Variation:

1052736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Glu192Lys	CA401362134 NM_001079804.3:c.574G>A