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      "coordinates": [
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          "referenceAllele": "C",
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      "geneSymbol": "SCN1A",
      "hgvs": [
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        "hgvsWellDefined": "NP_001340889.1:p.Ala1656Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
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    {
      "@id": "http://reg.genome.network/allele/PA916036940",
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      "gene": "http://reg.genome.network/gene/GN010585",
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      "geneSymbol": "SCN1A",
      "hgvs": [
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        "hgvs": "NP_001340890.1:p.Ala871Val",
        "hgvsWellDefined": "NP_001340890.1:p.Ala871Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA266122",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.5021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ala1674Val",
        "hgvsWellDefined": "NP_008851.3:p.Ala1674Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106954",
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ala1685Val",
        "hgvsWellDefined": "NP_001159435.1:p.Ala1685Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5054C>T"
          },
          "RefSeq": {
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ala1685Val"
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            "hgvs": "NP_001159435.1:p.Ala1685Val"
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        }
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  ],
  "type": "nucleotide"
}