Canonical Allele Identifier: PA2825886869
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126423
ClinVar RCV Id: RCV000114363
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138765.1:p.Arg384del
CA151136
NM_001145293.2:c.1151_1153del