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"geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Gln547Ter", "hgvsWellDefined": "NP_001339704.1:p.Gln548_Ala745delinsProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680588", "coordinates": [ { "allele": "T", "end": 1880, "referenceAllele": "C", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Gln547Ter", "hgvsWellDefined": "NP_001339705.1:p.Gln548_Ala745delinsProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681457", "coordinates": [ { "allele": "T", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Gln547Ter", "hgvsWellDefined": "NP_001339706.1:p.Gln548_Ala745delinsProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA2573280750", "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Gln547Ter", "hgvsWellDefined": "NP_068831.1:p.Gln548_Ala745delinsProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }