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        "NM_147157.3:c.427G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_671513.1:p.Gly143Ser",
        "hgvsWellDefined": "NP_671513.1:p.Gly143Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008157",
      "geneNCBI_id": 10280,
      "geneSymbol": "SIGMAR1",
      "hgvs": [
        "NR_104108.2:n.497G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730610"
    }
  ],
  "type": "nucleotide"
}