Allele Registry

Canonical Allele Identifier: PA092074

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV003050493

RCV003138470

ClinVar Variation:

2138113

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Tyr191Cys	CA401362123 NM_000152.5:c.572A>G