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_016875451.1:p.Asp743Glu	CA386292776 XM_017019962.2:c.2229C>G CA386292777 XM_017019962.2:c.2229C>A