Canonical Allele Identifier: PA2825290140
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 266062
ClinVar RCV Id: RCV000492219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008212.1:p.Met468Arg
CA203270133
NM_001008211.1:c.1403T>G