Allele Registry

Canonical Allele Identifier: PA645459122

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000492199

ClinVar Variation:

266059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008213.1:p.Lys94Gln	CA203255197 NM_001008212.2:c.280A>C