Allele Registry

Canonical Allele Identifier: PA645481950

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000313359

RCV000671751

ClinVar Variation:

284776

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Trp746Leu	CA8815663 NM_000152.5:c.2237G>T