Canonical Allele Identifier: PA2825290110
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1019966
ClinVar RCV Id: RCV001319476
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008212.1:p.Thr392Ala
CA5410895
NM_001008211.1:c.1174A>G