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.Asp518Glu
CA401367183
ENST00000572080.2:c.1554C>A
CA401367184
ENST00000572080.2:c.1554C>G