Allele Registry

Canonical Allele Identifier: PA2825289988

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000492199

ClinVar Variation:

266059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008212.1:p.Lys94Gln	CA203255197 NM_001008211.1:c.280A>C