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      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.3571G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
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      "@id": "http://reg.genome.network/allele/PA2826092685",
      "coordinates": [
        {
          "allele": "T",
          "end": 3537,
          "referenceAllele": "G",
          "start": 3536
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      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.3133G>T"
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      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Val1045Leu",
        "hgvsWellDefined": "NP_001165401.1:p.Val1045Leu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137359",
      "coordinates": [
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          "allele": "T",
          "end": 3537,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Val1045Leu",
        "hgvsWellDefined": "NP_071407.4:p.Val1045Leu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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  ],
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}