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
ENSP00000387430.1:p.Cys319Ser
CA351901985
ENST00000428257.5:c.956G>C
CA351901995
ENST00000428257.5:c.955T>A