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) Matching Registered Transcripts
ENSP00000459972.2:p.Glu530Asp
CA401367265
ENST00000572080.2:c.1590G>C
CA401367266
ENST00000572080.2:c.1590G>T