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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.26C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Ala9Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Ala9Glu"
          }
        }
      }
    },
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      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
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      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.26C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Ala9Glu",
        "hgvsWellDefined": "XP_005271590.1:p.Ala9Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196,
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      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
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      ],
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        "hgvsWellDefined": "XP_024304228.1:p.Ala9Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812380",
      "coordinates": [
        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.26C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Ala9Glu",
        "hgvsWellDefined": "NP_001245137.1:p.Ala9Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
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          "referenceAllele": "C",
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      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.-117C>A"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}