Canonical Allele Identifier: PA2825290654
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 7102
ClinVar RCV Id: RCV000007520
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008214.1:p.Glu478Gly
CA254105
NM_001008213.1:c.1433A>G