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
NP_001138767.1:p.Lys300Asn
CA351902231
NM_001145295.2:c.900A>T
CA351902232
NM_001145295.2:c.900A>C