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        "hgvsWellDefined": "NP_001019553.1:p.Trp181_His344delinsHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "referenceAllele": "G",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.540G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Trp180Ter",
        "hgvsWellDefined": "XP_005271590.1:p.Trp180_His343delinsHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1217,
          "referenceAllele": "G",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.543G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Trp181Ter",
        "hgvsWellDefined": "XP_016873118.1:p.Trp181_His344delinsHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.540G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Trp180Ter",
        "hgvsWellDefined": "XP_024304228.1:p.Trp180_His303delinsHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645470648",
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.594G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Trp198Ter",
        "hgvsWellDefined": "NP_001245137.1:p.Trp198_His321delinsHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826455030",
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.543G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Trp181Ter",
        "hgvsWellDefined": "NP_001245138.1:p.Trp181_His304delinsHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}