Allele Registry

Canonical Allele Identifier: PA2825886646

Gene: NGLY1 HGNC NCBI

ClinVar RCV:

RCV000454236

ClinVar Variation:

402216

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138765.1:p.Ile105Ser	CA16609506 NM_001145293.2:c.314T>G