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      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004152.1:c.217-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859641.1:n.217-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 608,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_024452913.1:c.328-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308681.1:n.328-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 426,
          "endIntronDirection": "-",
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          "start": 426,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.376-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:n.376-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.376-2A>C"
          },
          "RefSeq": {
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    }
  ],
  "type": "nucleotide"
}