Canonical Allele Identifier: PA254106
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 7102
ClinVar RCV Id: RCV000007520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008212.1:p.Glu478Gly
CA254105
NM_001008211.1:c.1433A>G