Allele Registry

Canonical Allele Identifier: PA2825460153

Gene: GAA HGNC NCBI

ClinVar Allele:

186992

ClinVar RCV:

RCV000169143

RCV003144146

RCV004020013

ClinVar Variation:

188809

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Arg190His	CA273988 NM_001079803.3:c.569G>A