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      "geneNCBI_id": 53904,
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      "hgvs": [
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        "hgvsWellDefined": "XP_011517813.1:p.His442Asn"
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      "referenceSequence": "http://reg.genome.network/refseq/RS545392"
    },
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          "allele": "A",
          "end": 1528,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
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      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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}