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"http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001371623.1:c.4028G>A" ], "proteinEffect": { "hgvs": "NP_001358552.1:p.Trp1343Ter", "hgvsWellDefined": "NP_001358552.1:p.Trp1343_Val1489delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692996", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.4028G>A" }, "RefSeq": { "hgvs": "NM_001371623.1:c.4028G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Trp1343Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Trp1343Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825790998", "coordinates": [ { "allele": "A", "end": 4075, "referenceAllele": "G", "start": 4074 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.2:c.4025G>A" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Trp1342Ter", "hgvsWellDefined": "NP_001128715.1:p.Trp1342_Val1488delinsGluSerArgLysArgLysLeuSerGlyAspGlnProAlaAlaArgThrProArgSerLysLysLysLysLysLeuGlyAlaGlyGluGlyGlyGluAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712433" } ], "type": "nucleotide" }