Allele Registry

Canonical Allele Identifier: PA645459125

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000492219

ClinVar Variation:

266062

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008213.1:p.Met468Arg	CA203270133 NM_001008212.2:c.1403T>G