Allele Registry

Canonical Allele Identifier: PA113713

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000285433

RCV000498412

RCV002265734

ClinVar Variation:

325782

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Ser254Leu	CA8815009 NM_000152.5:c.761C>T