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          "referenceAllele": "C",
          "start": 2738
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      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751831.2:n.2739C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5341,
          "referenceAllele": "C",
          "start": 5340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751832.1:n.5341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830378290",
      "coordinates": [
        {
          "allele": "T",
          "end": 2215,
          "referenceAllele": "C",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_178452.6:c.2082C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_848547.4:p.Ala694="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378553.10:c.2082C>T"
          },
          "RefSeq": {
            "hgvs": "NM_178452.6:c.2082C>T"
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        "protein": {
          "Ensembl": {
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          "RefSeq": {
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        }
      }
    }
  ],
  "type": "nucleotide"
}