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        "hgvs": "NP_899630.1:n.888+5750G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1275,
          "endIntronDirection": "+",
          "endIntronOffset": 5750,
          "referenceAllele": "G",
          "start": 1275,
          "startIntronDirection": "+",
          "startIntronOffset": 5749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001426",
      "geneNCBI_id": 8618,
      "geneSymbol": "CADPS",
      "hgvs": [
        "NM_183394.3:c.888+5750G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899631.1:n.888+5750G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701177"
    }
  ],
  "type": "nucleotide"
}