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      "gene": "http://reg.genome.network/gene/GN010585",
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      "geneSymbol": "SCN1A",
      "hgvs": [
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
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    {
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        "hgvsWellDefined": "NP_008851.3:p.Val933Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
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    {
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      "geneSymbol": "SCN1A",
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    {
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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  "type": "nucleotide"
}