Allele Registry

Canonical Allele Identifier: PA915964664

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000443985

RCV000666526

ClinVar Variation:

379593

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Pro493Leu	CA16608675 NM_001079804.3:c.1478C>T