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"http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.2:c.1852C>T" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Arg618Ter", "hgvsWellDefined": "NP_001341298.1:p.Arg618_Thr828delinsAspLeuAlaAlaArgAsnValLeuValThrGluAspAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleHisHisIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720436" }, { "@id": "http://reg.genome.network/allele/PA2827848861", "coordinates": [ { "allele": "T", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.2:c.1591C>T" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Arg531Ter", "hgvsWellDefined": 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