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"geneNCBI_id": 6095, "geneSymbol": "RORA", "hgvs": [ "NM_134262.3:c.854del" ], "proteinEffect": { "hgvs": "NP_599024.1:p.Arg285ProfsTer17", "hgvsWellDefined": "NP_599024.1:p.[Arg285_Phe289delinsProLeu;Glu291Asp;Cys293_Gln294delinsTrp;Asp296_Ile298delinsCys;Leu300_Leu301del;Ala303_Ser305delinsMetIleLys;Glu307_Val309delinsCys;Ile311_Cys314del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS699678" }, { "coordinates": [ { "allele": "", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN010258", "geneNCBI_id": 6095, "geneSymbol": "RORA", "hgvs": [ "NM_002943.4:c.1094del" ], "proteinEffect": { "hgvs": "NP_002934.1:p.Arg365ProfsTer17", "hgvsWellDefined": "NP_002934.1:p.[Arg365_Phe369delinsProLeu;Glu371Asp;Cys373_Gln374delinsTrp;Asp376_Ile378delinsCys;Leu380_Leu381del;Ala383_Ser385delinsMetIleLys;Glu387_Val389delinsCys;Ile391_Cys394del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS727337" }, { "coordinates": [ { "allele": "", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN010258", "geneNCBI_id": 6095, "geneSymbol": "RORA", "hgvs": [ "NM_134260.3:c.1118del" ], "proteinEffect": { "hgvs": "NP_599022.1:p.Arg373ProfsTer17", "hgvsWellDefined": "NP_599022.1:p.[Arg373_Phe377delinsProLeu;Glu379Asp;Cys381_Gln382delinsTrp;Asp384_Ile386delinsCys;Leu388_Leu389del;Ala391_Ser393delinsMetIleLys;Glu395_Val397delinsCys;Ile399_Cys402del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS729123" } ], "type": "nucleotide" }