Allele Registry

Canonical Allele Identifier: PA915964382

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000346548

RCV000823361

ClinVar Variation:

286250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Arg229Cys	CA8814962 NM_001079804.3:c.685C>T