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          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139026.6:c.1249C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620595.1:p.Gln417Glu",
        "hgvsWellDefined": "NP_620595.1:p.Gln417Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916071897",
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 1418
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      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NM_139027.6:c.1342C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_620596.2:p.Gln448Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355699.7:c.1342C>G"
          },
          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347927.2:p.Gln448Glu"
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          "RefSeq": {
            "hgvs": "NP_620596.2:p.Gln448Glu"
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    {
      "coordinates": [
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          "end": 994,
          "endIntronDirection": "-",
          "endIntronOffset": 2503,
          "referenceAllele": "C",
          "start": 994,
          "startIntronDirection": "-",
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      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NR_024514.3:n.995-2504C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730190"
    }
  ],
  "type": "nucleotide"
}