Canonical Allele Identifier: PA2825289972
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2078827
ClinVar RCV Id: RCV002988839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008212.1:p.Met65Thr
CA376027358
NM_001008211.1:c.194T>C