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        "hgvsWellDefined": "NP_001274274.1:p.Arg386Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093787",
      "coordinates": [
        {
          "allele": "C",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
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      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1685G>C"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000052.1:p.Arg562Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000308731.8:c.1685G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1685G>C"
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    {
      "@id": "http://reg.genome.network/allele/PA916016781",
      "coordinates": [
        {
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          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
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        "hgvsWellDefined": "NP_001274273.1:p.Arg596Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742813",
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1157G>C"
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        "hgvsWellDefined": "NP_001274274.1:p.Arg386Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}