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"geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.2:c.27T>A" ], "proteinEffect": { "hgvs": "NP_001309903.1:p.Tyr9Ter", "hgvsWellDefined": "NP_001309903.1:p.Tyr9_Phe239delinsAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685885" }, { "@id": "http://reg.genome.network/allele/PA113997", "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "T", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.213T>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Tyr71Ter", "hgvsWellDefined": "NP_001165285.1:p.Tyr71_Phe301delinsAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }