Allele Registry

Canonical Allele Identifier: PA2825886869

Gene: NGLY1 HGNC NCBI

ClinVar RCV:

RCV000114363

ClinVar Variation:

126423

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