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      "geneNCBI_id": 8546,
      "geneSymbol": "AP3B1",
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        "hgvsWellDefined": "XP_005248676.1:p.Trp239Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS533114"
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        {
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      "gene": "http://reg.genome.network/gene/GN000566",
      "geneNCBI_id": 8546,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016865490.1:p.Trp190Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS564165"
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    {
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      "gene": "http://reg.genome.network/gene/GN000566",
      "geneNCBI_id": 8546,
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      "hgvs": [
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        "hgvsWellDefined": "NP_001258698.1:p.Trp190Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681191"
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      "@id": "http://reg.genome.network/allele/PA3071348994",
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        "hgvsWellDefined": "NP_003655.3:p.Trp239Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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  ],
  "type": "nucleotide"
}