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.Cys442Ser
CA386302000
ENST00000549940.5:c.1325G>C
CA386302003
ENST00000549940.5:c.1324T>A