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"proteinEffect": { "hgvs": "NP_009231.2:p.Trp1739Ter", "hgvsWellDefined": "NP_009231.2:p.Trp1739_Tyr1884delinsValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "A", "end": 5331, "referenceAllele": "G", "start": 5330 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.5331G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }