Allele Registry

Canonical Allele Identifier: PA2825290290

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV002730747

ClinVar Variation:

1972747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008213.1:p.His197Gln	CA376028255 NM_001008212.2:c.591T>A CA376028256 NM_001008212.2:c.591T>G