Allele Registry

Canonical Allele Identifier: PA645448494

Gene: NGLY1 HGNC NCBI

ClinVar RCV:

RCV000483669

RCV001341093

RCV002470875

ClinVar Variation:

424175

HGVS (amino-acid)	Matching Registered Transcripts
NP_060767.2:p.Glu326_Ala327delinsAsp	CA2289327 NM_018297.3:c.978_980del