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"coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_001169111.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001162582.1:p.Arg90Ter", "hgvsWellDefined": "NP_001162582.1:p.Arg90_Ser266delinsThrGluAlaLeuArgGlnAlaAlaValGlyGlnGlyAspPheHisLeuLeuAspHisArgGlyArgAlaArgCysLysAlaAspPheArgGlyGlnTrpValLeuMetTyrPheGlyPheThrHisCysProAspIleCysProAspGluLeuGluLysLeuValGlnValValArgGlnLeuGluAlaGluProGlyLeuProProValGlnProValPheIleThrValAspProGluArgAspAspValGluAlaMetAlaArgTyrValGlnAspPheHisProArgLeuLeuGlyLeuThrGlySerThrLysGlnValAlaGlnAlaSerHisSerTyrArgValTyrTyrAsnAlaGlyProLysAspGluAspGlnAspTyrIleValAspHisSerIleAlaIleTyrLeuLeuAsnProAspGlyLeuPheThrAspTyrTyrGlyArgSerArgSerAlaGluGlnIleSerAspSerValArgArgHisMetAlaAlaPheArgSerValLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713305" } ], "type": "nucleotide" }