Canonical Allele Identifier: PA2825290242
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 969108
ClinVar RCV Id: RCV001244376 RCV002436959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008213.1:p.Arg96His
CA5410555
NM_001008212.2:c.287G>A