Canonical Allele Identifier: PA2825290545
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1972747
ClinVar RCV Id: RCV002730747
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008214.1:p.His197Gln
CA376028255
NM_001008213.1:c.591T>A
CA376028256
NM_001008213.1:c.591T>G