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          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.4:c.303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Ala101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
    }
  ],
  "type": "nucleotide"
}