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      "hgvs": [
        "NM_001127706.2:c.*49G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*49G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1590,
          "referenceAllele": "G",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*49G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*49G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}