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: NGLY1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000307980.5:p.Phe322Leu	CA351901888 ENST00000308710.9:c.966T>G CA351901890 ENST00000308710.9:c.966T>A CA351901900 ENST00000308710.9:c.964T>C