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

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000460543.1:p.Arg40_Pro285del
ENST00000570803.5:c.118C>T