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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS727474",
      "MANE": {
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        "maneStatus": "MANE Select",
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      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.4:c.2725C>T"
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      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Arg909Cys",
        "hgvsWellDefined": "NP_075408.1:p.Arg909Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728616"
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS730307"
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  "type": "nucleotide"
}