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
ENSP00000387430.1:p.Phe316Leu	CA351902023 ENST00000428257.5:c.948T>G CA351902025 ENST00000428257.5:c.948T>A CA351902034 ENST00000428257.5:c.946T>C