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      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.10197dup"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016866436.1:p.[Asn3400_Ser3404delinsGluGln;Leu3406Tyr;Leu3408Gln;Val3410_Gln3416del;Pro3418_Phe3421del;Glu3424_Phe3426delinsCys;Pro3428Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 10521
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      "gene": "http://reg.genome.network/gene/GN009016",
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        "hgvsWellDefined": "XP_016866437.1:p.[Asn3251_Ser3255delinsGluGln;Leu3257Tyr;Leu3259Gln;Val3261_Gln3267del;Pro3269_Phe3272del;Glu3275_Phe3277delinsCys;Pro3279Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN009016",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Asn2868GlufsTer15",
        "hgvsWellDefined": "XP_016866438.1:p.[Asn2868_Ser2872delinsGluGln;Leu2874Tyr;Leu2876Gln;Val2878_Gln2884del;Pro2886_Phe2889del;Glu2892_Phe2894delinsCys;Pro2896Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.10737dup"
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      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3145,
          "endIntronDirection": "+",
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          "referenceAllele": "",
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      "referenceSequence": "http://reg.genome.network/refseq/RS593061"
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    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS608366"
    },
    {
      "coordinates": [
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          "endIntronDirection": "+",
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      "referenceSequence": "http://reg.genome.network/refseq/RS608367"
    },
    {
      "coordinates": [
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    {
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      "hgvs": [
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        "hgvsWellDefined": "NP_619639.3:p.[Asn3488_Ser3492delinsGluGln;Leu3494Tyr;Leu3496Gln;Val3498_Gln3504del;Pro3506_Phe3509del;Glu3512_Phe3514delinsCys;Pro3516Leu]"
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NP_619639.3:p.Asn3488GlufsTer15"
          }
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    }
  ],
  "type": "nucleotide"
}