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"allele": "A", "end": 4224, "referenceAllele": "C", "start": 4223 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3888C>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Tyr1296Ter", "hgvsWellDefined": "NP_001305760.1:p.Tyr1296_Val1563delinsAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827020193", "coordinates": [ { "allele": "A", "end": 4520, "referenceAllele": "C", "start": 4519 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.4452C>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Tyr1484Ter", "hgvsWellDefined": "NP_001305761.1:p.Tyr1484_Val1751delinsAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828094607", "coordinates": [ { "allele": "A", "end": 4532, "referenceAllele": "C", "start": 4531 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.4422C>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Tyr1474Ter", "hgvsWellDefined": "NP_001350457.1:p.Tyr1474_Val1741delinsAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829981738", "coordinates": [ { "allele": "A", "end": 4601, "referenceAllele": "C", "start": 4600 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.4491C>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Tyr1497Ter", "hgvsWellDefined": "NP_066399.2:p.Tyr1497_Val1764delinsAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }