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        {
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          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 5920,
          "referenceAllele": "C",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.579+5920C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "endIntronDirection": "+",
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          "referenceAllele": "C",
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          "startIntronOffset": 5919
        }
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      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.579+5920C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829995406",
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.3:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Pro33="
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      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.99G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.99G>A"
          }
        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_071881.1:p.Pro33="
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        }
      }
    }
  ],
  "type": "nucleotide"
}