Canonical Allele Identifier: PA2825887256
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424175
ClinVar RCV Id: RCV000483669 RCV001341093 RCV002470875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138766.1:p.Glu284_Ala285delinsAsp
CA2289327
NM_001145294.2:c.852_854del