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      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
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    {
      "@id": "http://reg.genome.network/allele/PA2827789807",
      "coordinates": [
        {
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          "referenceAllele": "T",
          "start": 5654
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.5264T>C"
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      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Val1755Ala",
        "hgvsWellDefined": "NP_001340889.1:p.Val1755Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037010",
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
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      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.2909T>C"
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      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Val970Ala",
        "hgvsWellDefined": "NP_001340890.1:p.Val970Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676509",
      "coordinates": [
        {
          "allele": "C",
          "end": 5796,
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.5318T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Val1773Ala",
        "hgvsWellDefined": "NP_008851.3:p.Val1773Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
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          "referenceAllele": "T",
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      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.5768T>C"
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      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405185",
      "coordinates": [
        {
          "allele": "C",
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          "referenceAllele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.5351T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Val1784Ala",
        "hgvsWellDefined": "NP_001159435.1:p.Val1784Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5351T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5351T>C"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Val1784Ala"
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          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Val1784Ala"
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        }
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  ],
  "type": "nucleotide"
}