Canonical Allele Identifier: PA2825290236
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 299209
ClinVar RCV Id: RCV000328367 RCV000382888 RCV001859779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008213.1:p.Arg83Cys
CA5410547
NM_001008212.2:c.247C>T