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        "hgvsWellDefined": "NP_001274274.1:p.Arg386Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
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      "coordinates": [
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          "allele": "T",
          "end": 1844,
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      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000052.1:p.Arg562Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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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.Arg596Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742812",
      "coordinates": [
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
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        "hgvsWellDefined": "NP_001274274.1:p.Arg386Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
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  "type": "nucleotide"
}