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"start": 752 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351498.2:c.630T>A" ], "proteinEffect": { "hgvs": "NP_001338427.1:p.Tyr210Ter", "hgvsWellDefined": "NP_001338427.1:p.Tyr210_Asp412delinsProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysIleProValSerGluValTyrThrValLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688850" }, { "@id": 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"start": 962 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NM_001351500.2:c.234T>A" ], "proteinEffect": { "hgvs": "NP_001338429.1:p.Tyr78Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147213.2:n.845T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704538" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN003622", "geneNCBI_id": 2218, "geneSymbol": "FKTN", "hgvs": [ "NR_147214.2:n.753T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704539" } ], "type": "nucleotide" }