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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.9947T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Met3316Thr",
        "hgvsWellDefined": "XP_024305105.1:p.Met3316Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081070753",
      "coordinates": [
        {
          "allele": "C",
          "end": 10509,
          "referenceAllele": "T",
          "start": 10508
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      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.9920T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Met3307Thr",
        "hgvsWellDefined": "NP_055178.3:p.Met3307Thr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.9920T>C"
          },
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        "protein": {
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            "hgvs": "ENSP00000371729.3:p.Met3307Thr"
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          "RefSeq": {
            "hgvs": "NP_055178.3:p.Met3307Thr"
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        }
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    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.9479T>C"
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      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Met3160Thr",
        "hgvsWellDefined": "NP_001264984.1:p.Met3160Thr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}