Allele Registry

Canonical Allele Identifier: PA112883

Gene: GAA HGNC NCBI

ClinVar Allele:

961125

ClinVar RCV:

RCV001248866

RCV001876297

RCV003142223

ClinVar Variation:

972747

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Arg594His	CA8815477 NM_000152.5:c.1781G>A