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      "hgvs": [
        "NM_001303418.2:c.465+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:n.465+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}