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        "hgvsWellDefined": "NP_001340887.1:p.Ala1634Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789567",
      "coordinates": [
        {
          "allele": "T",
          "end": 5289,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4898C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Ala1633Val",
        "hgvsWellDefined": "NP_001340889.1:p.Ala1633Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036925",
      "coordinates": [
        {
          "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": [
        "NM_001353961.2:c.2543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Ala848Val",
        "hgvsWellDefined": "NP_001340890.1:p.Ala848Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303547",
      "coordinates": [
        {
          "allele": "T",
          "end": 5430,
          "referenceAllele": "C",
          "start": 5429
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4952C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ala1651Val",
        "hgvsWellDefined": "NP_008851.3:p.Ala1651Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5402,
          "referenceAllele": "C",
          "start": 5401
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5402C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303548",
      "coordinates": [
        {
          "allele": "T",
          "end": 5463,
          "referenceAllele": "C",
          "start": 5462
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ala1662Val",
        "hgvsWellDefined": "NP_001159435.1:p.Ala1662Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4985C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4985C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ala1662Val"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Ala1662Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}