Canonical Allele Identifier: PA2573274211
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1412075
ClinVar RCV Id: RCV001918988
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060767.2:p.Cys306Arg
CA71655747
NM_018297.3:c.916T>C