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          "allele": "G",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Met1Val",
        "hgvsWellDefined": "NP_001245137.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.-142A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:n.-142A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}