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_016875450.1:p.Asp1080Glu	CA386292776 XM_017019961.1:c.3240C>G CA386292777 XM_017019961.1:c.3240C>A