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"C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302959.2:c.247C>T" ], "proteinEffect": { "hgvs": "NP_001289888.1:p.Gln83Ter", "hgvsWellDefined": "NP_001289888.1:p.Gln84_His271delinsAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717004" } ], "type": "nucleotide" }