Canonical Allele Identifier: PA2825887755
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1412075
ClinVar RCV Id: RCV001918988

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138767.1:p.Cys306Arg
CA71655747
NM_001145295.2:c.916T>C