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
ENSP00000449150.1:p.His379Gln	CA386302834 ENST00000549940.5:c.1137C>G CA386302836 ENST00000549940.5:c.1137C>A