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        "NM_001145103.2:c.665C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Ser222Leu",
        "hgvsWellDefined": "NP_001138575.1:p.Ser222Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573182191",
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.2:c.212C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Ser71Leu",
        "hgvsWellDefined": "NP_001138576.1:p.Ser71Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712753"
    }
  ],
  "type": "nucleotide"
}