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        "hgvsWellDefined": "NP_001272331.1:p.Ile167Val"
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      "coordinates": [
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          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285403.3:c.592A>G"
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      "proteinEffect": {
        "hgvs": "NP_001272332.1:p.Ile198Val",
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      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
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      "hgvs": [
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        "hgvsWellDefined": "NP_055151.3:p.Ile206Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS697229",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS716093"
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}