Allele Registry

Canonical Allele Identifier: PA1139740656

Gene: NGLY1 HGNC NCBI

ClinVar RCV:

RCV000114363

ClinVar Variation:

126423

HGVS (amino-acid)	Matching Registered Transcripts
NP_060767.2:p.Arg402del	CA151136 NM_018297.3:c.1205_1207del