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    },
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          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.1498G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Val500Ile",
        "hgvsWellDefined": "XP_024305105.1:p.Val500Ile"
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      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_055178.3:p.Val500Ile"
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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    {
      "@id": "http://reg.genome.network/allele/PA2826576152",
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
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  ],
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}