Allele Registry

Canonical Allele Identifier: PA645481614

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000346548

RCV000823361

ClinVar Variation:

286250

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Arg229Cys	CA8814962 NM_000152.5:c.685C>T