Allele Registry

Canonical Allele Identifier: PA113244

Gene: GAA HGNC NCBI

ClinVar Allele:

178323

ClinVar RCV:

RCV000156939

RCV001579766

ClinVar Variation:

180142

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Gly335Glu	CA273683 NM_000152.5:c.1004G>A