Allele Registry

Canonical Allele Identifier: PA658675291

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000492386

RCV000557693

RCV002059063

RCV002374436

ClinVar Variation:

266060

HGVS (amino-acid)	Matching Registered Transcripts
NP_068815.2:p.Gln314Leu	CA5410811 NM_021980.4:c.941A>T