Allele Registry

Canonical Allele Identifier: PA2499237178

Gene: GAA HGNC NCBI

ClinVar Variation Id: 1003172

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Ser142Arg	CA8814871 NM_001079804.3:c.426C>A CA401361247 NM_001079804.3:c.424A>C CA401361267 NM_001079804.3:c.426C>G