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          "referenceAllele": "G",
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      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201593.3:c.1478G>A"
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        "hgvs": "NP_963887.2:p.Arg493His",
        "hgvsWellDefined": "NP_963887.2:p.Arg493His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS701581"
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      "@id": "http://reg.genome.network/allele/PA301861",
      "coordinates": [
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          "allele": "A",
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      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
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      "hgvs": [
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        "hgvsWellDefined": "NP_963890.2:p.Arg531His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS701583",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "gene": "http://reg.genome.network/gene/GN001402",
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      "referenceSequence": "http://reg.genome.network/refseq/RS701584"
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}