Allele Registry

Canonical Allele Identifier: PA645481578

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000403362

RCV000815535

RCV000852726

ClinVar Variation:

284483

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Gln121Arg	CA8814857 NM_000152.5:c.362A>G