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      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Ala47CysfsTer?",
        "hgvsWellDefined": "NP_001263690.1:p.[Ala47_Ala49delinsCysThrSer;Ser51_Val58delinsLeuLeuAlaProValIlePheCys;Ser60_Gln65delinsPheProGluAsnLeuPro;Ser67_Gly69delinsGlnLeuArg;Arg71_Leu72delinsProSer;Phe74Leu;Leu75_His76insAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715417"
    }
  ],
  "type": "nucleotide"
}