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          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358563.5:p.Ala45Thr"
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          "RefSeq": {
            "hgvs": "NP_001354.1:p.Ala45Thr"
          }
        }
      }
    },
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      "@id": "http://reg.genome.network/allele/PA2825793518",
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
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      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001142463.3:c.133G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135935.1:p.Ala45Thr",
        "hgvsWellDefined": "NP_001135935.1:p.Ala45Thr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677534"
    },
    {
      "coordinates": [
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          "end": 712,
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      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110021.2:n.712G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS703098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110022.2:n.235G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS703099"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110023.2:n.235G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS703100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826720033",
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
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      "hgvs": [
        "NM_001288747.2:c.133G>A"
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        "hgvsWellDefined": "NP_001275676.1:p.Ala45Thr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS716472"
    }
  ],
  "type": "nucleotide"
}