Allele Registry

Canonical Allele Identifier: PA658674426

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000543300

RCV003144317

ClinVar Variation:

456396

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Ala749Ser	CA8815668 NM_000152.5:c.2245G>T