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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000379886.3:p.Phe316Leu
CA351902023
ENST00000396649.7:c.948T>G
CA351902025
ENST00000396649.7:c.948T>A
CA351902034
ENST00000396649.7:c.946T>C