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"gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.2:c.1975C>T" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Arg659Ter", "hgvsWellDefined": "NP_001341296.1:p.Arg659_Thr830delinsLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720435" }, { "@id": "http://reg.genome.network/allele/PA2827848422", "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "C", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.2:c.1969C>T" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Arg657Ter", "hgvsWellDefined": "NP_001341298.1:p.Arg657_Thr828delinsLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720436" }, { "@id": "http://reg.genome.network/allele/PA2827848895", "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.2:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Arg570Ter", "hgvsWellDefined": "NP_001341299.1:p.Arg570_Thr741delinsLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgIleTyrThrHisGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIlePheThrLeuGlyGlySerProTyrProGlyValProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProSerAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleValAlaLeuThrSerAsnGlnValLeuHisProAspLeuThrThrHisLeuLeuProLeuArgCysPheTrpLysValArgLysArgArgCysLeuLeuArgGlyGlnGluProHisProCysSerArgGlyAlaGlyGlnArgValLysAlaGlnGlnProSerThrMetAspGlyPheLeuGlnGlyAsnArgTrpGlyTrpAlaGlyGluGlyAlaProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720437" } ], "type": "nucleotide" }