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        "hgvs": "XP_016876028.1:p.Arg2116Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
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          "allele": "T",
          "end": 7021,
          "referenceAllele": "C",
          "start": 7020
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.6382C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Arg2128Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.6355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Arg2119Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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        },
        "protein": {
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          "RefSeq": {
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      "coordinates": [
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      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}