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.Ser378Arg	CA386302846 ENST00000549940.5:c.1134C>G CA386302848 ENST00000549940.5:c.1134C>A CA386302857 ENST00000549940.5:c.1132A>C