{{Rsnum
|rsid=62653011
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RPE65
|position=68438213
|Gene_s=RPE65
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000022749.23; RCV000022750.23; RCV000085150.1
|CLNALLE=1
|CLNDBN=Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1417:C3151086:613794:ORPHA791; NBK1298:C1859844:204100:ORPHA65
|CLNHGVS=NC_000001.11:g.68438213A>G
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant; Retina International
|CLNSRCID=NM_000329.2:c.1102T>C; 180069.0009; RISN-RPE65:c.1102T>C
|Disease=Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provided
|FwdALT=C
|FwdREF=T
|GENEINFO=RPE65:6121
|GENE_ID=6121
|GENE_NAME=RPE65
|REF=A
|RSPOS=68438213
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD
|VC=SNV
|VP=0x050360000a05000002100100
|WGT=1
|dbSNPBuildID=137
|rsid=62653011
|CLNORIGIN=1
}}