Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
XP_011537033.1:p.Phe375Leu	CA6746683 XM_011538731.2:c.1123T>C CA386302601 XM_011538731.2:c.1125T>G CA386302603 XM_011538731.2:c.1125T>A