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"NP_001136076.1:p.Trp17_Gly203delinsThrCysAlaSerArgAlaLeuGlnHisLeuAspProProAlaProLeuProLeuValIleTrpHisGlyMetGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677588" }, { "@id": "http://reg.genome.network/allele/PA2499252960", "coordinates": [ { "allele": "A", "end": 65, "referenceAllele": "G", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001363695.2:c.51G>A" ], "proteinEffect": { "hgvs": 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