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
XP_011532246.1:p.Glu249_Ala250delinsAsp
CA2289327
XM_011533944.1:c.747_749del