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"http://reg.genome.network/allele/PA2826133726", "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.1210G>T" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Glu404Ter", "hgvsWellDefined": "NP_001171480.1:p.Glu404_Lys551delinsLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826133051", "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.1210G>T" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Glu404Ter", "hgvsWellDefined": "NP_001171479.1:p.Glu404_Lys551delinsLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA1139696496", "coordinates": [ { "allele": "T", "end": 1468, "referenceAllele": "G", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.1210G>T" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Glu404Ter", "hgvsWellDefined": "NP_001307227.1:p.Glu404_Lys551delinsLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }