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
XP_005265373.1:p.Phe316Leu	CA351902023 XM_005265316.1:c.948T>G CA351902025 XM_005265316.1:c.948T>A CA351902034 XM_005265316.1:c.946T>C