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.Gln1040His	CA386294701 XM_011538731.2:c.3120G>T CA386294703 XM_011538731.2:c.3120G>C