Canonical Allele Identifier: PA2825887258
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 952463
ClinVar RCV Id: RCV001224579
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138766.1:p.Ala285Thr
CA2289328
NM_001145294.2:c.853G>A