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"geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.3:c.1274C>G" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Ser425Ter", "hgvsWellDefined": "NP_004444.2:p.Ser425_Met617delinsLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029615" }, { "coordinates": [ { "allele": "G", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 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"http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.4:c.1274C>G" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Ser425Ter", "hgvsWellDefined": "NP_004444.2:p.Ser425_Met617delinsLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": 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