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      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS703943"
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      "@id": "http://reg.genome.network/allele/PA2573216856",
      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
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      "hgvs": [
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        "hgvsWellDefined": "NP_001373322.1:p.Leu19Phe"
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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
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}