Allele Registry

Canonical Allele Identifier: PA2825462060

Gene: GAA HGNC NCBI

ClinVar Allele:

961125

ClinVar RCV:

RCV001248866

RCV001876297

RCV003142223

ClinVar Variation:

972747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Arg594His	CA8815477 NM_001079803.3:c.1781G>A