Canonical Allele Identifier: PA2825887826
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126423
ClinVar RCV Id: RCV000114363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138767.1:p.Arg402del
CA151136
NM_001145295.2:c.1205_1207del