Canonical Allele Identifier: PA2825886830
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221576
ClinVar RCV Id: RCV000496158 RCV001731437 RCV002273988
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138765.1:p.Glu311Lys
CA2289336
NM_001145293.2:c.931G>A