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      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Gln177Ter",
        "hgvsWellDefined": "NP_001019553.1:p.Gln177_His344delinsArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Gln176Ter",
        "hgvsWellDefined": "XP_005271590.1:p.Gln176_His343delinsArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Gln177Ter",
        "hgvsWellDefined": "XP_016873118.1:p.Gln177_His344delinsArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Gln176Ter",
        "hgvsWellDefined": "XP_024304228.1:p.Gln176_His303delinsArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741848051",
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Gln194Ter",
        "hgvsWellDefined": "NP_001245137.1:p.Gln194_His321delinsArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826455025",
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.529C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Gln177Ter",
        "hgvsWellDefined": "NP_001245138.1:p.Gln177_His304delinsArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}