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"http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Gln247Ter", "hgvsWellDefined": "NP_001107227.1:p.Gln247_Gln482delinsAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568413", "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Gln247Ter", "hgvsWellDefined": "NP_001107228.1:p.Gln247_Gln482delinsAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA2580252732", "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "C", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Gln247Ter", "hgvsWellDefined": "NP_001944.1:p.Gln247_Gln482delinsAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.739C>T" }, "RefSeq": { "hgvs": "NM_001953.5:c.739C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Gln247Ter" }, "RefSeq": { "hgvs": "NP_001944.1:p.Gln247Ter" } } } } ], "type": "nucleotide" }