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.Asp186Glu
CA386304799
ENST00000549940.5:c.558C>G
CA386304800
ENST00000549940.5:c.558C>A