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1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.2:c.766C>T" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Arg256Ter", "hgvsWellDefined": "NP_001351269.1:p.Arg256_Thr433delinsValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720853" }, { "@id": "http://reg.genome.network/allele/PA2828143553", "coordinates": [ { "allele": "T", 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"T", "end": 1062, "referenceAllele": "C", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.2:c.766C>T" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Arg256Ter", "hgvsWellDefined": "NP_001351271.1:p.Arg256_Thr433delinsValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720855" }, { "@id": "http://reg.genome.network/allele/PA2828144123", "coordinates": [ { 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{ "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.2:c.766C>T" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Arg256Ter", "hgvsWellDefined": "NP_001351279.1:p.Arg256_Cys380delinsValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720857" }, { "@id": "http://reg.genome.network/allele/PA2828147020", "coordinates": [ { "allele": "T", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364356.2:c.388C>T" ], "proteinEffect": { "hgvs": "NP_001351285.1:p.Arg130Ter", "hgvsWellDefined": "NP_001351285.1:p.Arg130_Thr315delinsValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720858" }, { "@id": "http://reg.genome.network/allele/PA2828147195", "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364357.2:c.340C>T" ], "proteinEffect": { "hgvs": "NP_001351286.1:p.Arg114Ter", "hgvsWellDefined": "NP_001351286.1:p.Arg114_Thr291delinsValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720859" } ], "type": "nucleotide" }