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          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001077",
      "geneNCBI_id": 658,
      "geneSymbol": "BMPR1B",
      "hgvs": [
        "NM_001256792.2:c.11G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243721.1:p.Arg4Gln",
        "hgvsWellDefined": "NP_001243721.1:p.Arg4Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714837"
    }
  ],
  "type": "nucleotide"
}