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"gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.1259C>A" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Ser420Ter", "hgvsWellDefined": "NP_001171480.1:p.Ser420_Lys551delinsAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826133066", "coordinates": [ { "allele": "A", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.1259C>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Ser420Ter", "hgvsWellDefined": "NP_001171479.1:p.Ser420_Lys551delinsAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA2741863224", "coordinates": [ { "allele": "A", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.1259C>A" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Ser420Ter", "hgvsWellDefined": "NP_001307227.1:p.Ser420_Lys551delinsAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }