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          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 962,
          "referenceAllele": "C",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 963
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.475-963C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:n.475-963C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822201",
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.323C>T"
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      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Ala108Val",
        "hgvsWellDefined": "NP_001280033.1:p.Ala108Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018628",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.236C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Ala79Val",
        "hgvsWellDefined": "NP_001280034.1:p.Ala79Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}