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"geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.3:c.3288C>G" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Tyr1096Ter", "hgvsWellDefined": "NP_001269831.1:p.Tyr1096_Glu1285delinsProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681936" }, { "@id": "http://reg.genome.network/allele/PA2826673560", "coordinates": [ { "allele": "G", "end": 3853, "referenceAllele": "C", "start": 3852 } ], "gene": 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