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
ENSP00000307980.5:p.Trp309Arg
CA351902101
ENST00000308710.9:c.925T>C
CA351902104
ENST00000308710.9:c.925T>A