Canonical Allele Identifier: PA2825886822
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 541264
ClinVar RCV Id: RCV000651494 RCV002531977
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138765.1:p.Glu299Asp
CA2289345
NM_001145293.2:c.897G>T
CA351902239
NM_001145293.2:c.897G>C