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"NP_001017536.1:p.Tyr345Ter", "hgvsWellDefined": "NP_001017536.1:p.Tyr345_Ser477delinsArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675549" }, { "@id": "http://reg.genome.network/allele/PA2828130448", "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001364085.2:c.885C>A" ], "proteinEffect": { "hgvs": "NP_001351014.1:p.Tyr295Ter", "hgvsWellDefined": "NP_001351014.1:p.Tyr295_Pro494delinsArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690806" }, { "@id": "http://reg.genome.network/allele/PA2828533735", "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001374661.1:c.885C>A" ], "proteinEffect": { "hgvs": "NP_001361590.1:p.Tyr295Ter", "hgvsWellDefined": "NP_001361590.1:p.Tyr295_Ser427delinsArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693339" }, { "@id": "http://reg.genome.network/allele/PA2828533958", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012679", "geneNCBI_id": 7421, "geneSymbol": "VDR", "hgvs": [ "NM_001374662.1:c.885C>A" ], "proteinEffect": { "hgvs": "NP_001361591.1:p.Tyr295Ter", "hgvsWellDefined": "NP_001361591.1:p.Tyr295_Ser427delinsArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693340" } ], "type": "nucleotide" }