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          "allele": "T",
          "end": 2385,
          "referenceAllele": "G",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.2130G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Leu710Phe",
        "hgvsWellDefined": "NP_001120693.1:p.Leu710Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}