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.Glu1049Asp	CA386294622 XM_011538731.2:c.3147A>T CA386294623 XM_011538731.2:c.3147A>C