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: GNPTAB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000449150.1:p.Glu389Asp
CA386302740
ENST00000549940.5:c.1167A>T
CA386302742
ENST00000549940.5:c.1167A>C