Allele Registry

Canonical Allele Identifier: PA198774

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000168658

RCV000852728

RCV001000493

RCV001721094

RCV003907529

RCV004020009

ClinVar Variation:

188476

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Leu226Val	CA198772 NM_000152.5:c.676C>G