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        "NM_001369788.1:c.719T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356717.1:p.Ile240Thr",
        "hgvsWellDefined": "NP_001356717.1:p.Ile240Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011840",
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "T",
          "start": 899
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      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_014191.4:c.719T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055006.1:p.Ile240Thr",
        "hgvsWellDefined": "NP_055006.1:p.Ile240Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354534.11:c.719T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014191.4:c.719T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346534.4:p.Ile240Thr"
          },
          "RefSeq": {
            "hgvs": "NP_055006.1:p.Ile240Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826129506",
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "T",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NM_001177984.3:c.719T>C"
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      "proteinEffect": {
        "hgvs": "NP_001171455.1:p.Ile240Thr",
        "hgvsWellDefined": "NP_001171455.1:p.Ile240Thr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS713539"
    }
  ],
  "type": "nucleotide"
}