Allele Registry

Canonical Allele Identifier: PA645450642

Gene: NGLY1 HGNC NCBI

ClinVar RCV:

RCV000454236

ClinVar Variation:

402216

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138766.1:p.Ile63Ser	CA16609506 NM_001145294.2:c.188T>G