Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: GAA HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000374665.3:p.Ala749Val	CA401324787 ENST00000390015.7:c.2246C>T CA645599512 ENST00000390015.7:c.2246_2247delinsTT