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          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.575G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Arg192Pro",
        "hgvsWellDefined": "NP_075461.2:p.Arg192Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.575G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Arg192Pro",
        "hgvsWellDefined": "NP_001120693.1:p.Arg192Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}