{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410600840",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.637G>T (p.Glu213Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972359[alleleid]",
        "alleleId": 972359,
        "preferredName": "NM_000071.3(CBS):c.637G>T (p.Glu213Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984017",
        "RCV": [
          "RCV001264022"
        ],
        "variationId": 984017
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43065416C>A?assembly=hg38",
        "id": "chr21:g.43065416C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758703098",
        "rs": 758703098
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 43065416,
          "referenceAllele": "C",
          "start": 43065415
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43065416C>A",
        "CM000683.2:g.43065416C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15515,
          "referenceAllele": "G",
          "start": 15514
        }
      ],
      "hgvs": [
        "NG_008938.1:g.15515G>T",
        "LRG_777:g.15515G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.637G>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.637G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.637G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Glu213Ter"
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          "RefSeq": {
            "hgvs": "NP_000062.1:p.Glu213Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 874
        }
      ],
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      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.637G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000352643.3:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.637G>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Glu213Ter",
        "hgvsWellDefined": "ENSP00000381225.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000381231.3:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.948G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579796568",
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000062.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132809",
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.637G>T"
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      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001171479.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133487",
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
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      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.637G>T"
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      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001171480.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
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      "geneSymbol": "CBS",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Glu230Ter",
        "hgvsWellDefined": "XP_011528075.1:p.Glu230_Lys582delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.688G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Glu230Ter",
        "hgvsWellDefined": "XP_011528076.1:p.Glu230_Lys582delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.688G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Glu230Ter",
        "hgvsWellDefined": "XP_011528077.1:p.Glu230_Lys568delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.688G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Glu230Ter",
        "hgvsWellDefined": "XP_011528078.1:p.Glu230_Lys568delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.637G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011528079.1:p.Glu213_Lys565delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_011528080.1:p.Glu213_Lys565delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_011528081.1:p.Glu213_Lys565delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.637G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011528083.1:p.Glu213_Lys565delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.637G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011528084.1:p.Glu213_Lys565delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.322G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Glu108Ter",
        "hgvsWellDefined": "XP_011528085.1:p.Glu108_Lys460delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.322G>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132809",
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001171479.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133487",
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001171480.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139696230",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001307227.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827070160",
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.322G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001308001.1:p.Glu108_Lys446delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.688G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011528076.1:p.Glu230_Lys582delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_011528079.1:p.Glu213_Lys565delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.322G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Glu108Ter",
        "hgvsWellDefined": "XP_011528085.1:p.Glu108_Lys460delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_016883980.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.688G>T"
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      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Glu230Ter",
        "hgvsWellDefined": "XP_024307904.1:p.Glu230_Lys582delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.688G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Glu230Ter",
        "hgvsWellDefined": "XP_024307905.1:p.Glu230_Lys568delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.322G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Glu108Ter",
        "hgvsWellDefined": "XP_024307906.1:p.Glu108_Lys446delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "G",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.322G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Glu108Ter",
        "hgvsWellDefined": "XP_024307907.1:p.Glu108_Lys446delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.322G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Glu108Ter",
        "hgvsWellDefined": "XP_024307908.1:p.Glu108_Lys446delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.1008G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.787G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.787G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.787G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579796568",
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_000062.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.637G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.637G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Glu213Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Glu213Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133487",
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001171480.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132809",
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001171479.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139696230",
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001307227.1:p.Glu213_Lys551delinsIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}