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.Phe347Leu	CA252415 XM_011538731.2:c.1039T>C CA386302876 XM_011538731.2:c.1041T>G CA386302877 XM_011538731.2:c.1041T>A