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"proteinEffect": { "hgvs": "NP_000062.1:p.Trp409Ter", "hgvsWellDefined": "NP_000062.1:p.Trp410_Lys551delinsHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.1226G>A" }, "RefSeq": { "hgvs": "NM_000071.3:c.1226G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Trp409Ter" }, "RefSeq": { "hgvs": "NP_000062.1:p.Trp409Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133733", "coordinates": [ { "allele": "A", 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"geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.1226G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Trp409Ter", "hgvsWellDefined": "NP_001171479.1:p.Trp410_Lys551delinsHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA1139696524", "coordinates": [ { "allele": "A", "end": 1484, "referenceAllele": "G", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.1226G>A" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Trp409Ter", "hgvsWellDefined": "NP_001307227.1:p.Trp410_Lys551delinsHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }