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          "referenceAllele": "C",
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      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016866441.1:p.Arg1624Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS564905"
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      "coordinates": [
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      "MANE": {
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        "maneStatus": "MANE Select",
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}