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        "hgvs": "NP_001305016.1:p.Ala195SerfsTer14",
        "hgvsWellDefined": "NP_001305016.1:p.[Ala195Ser;Gly197_Ala198delinsArgCys;Val200_Leu209delinsCysGlnPro;Trp211_Tyr215delinsPro;Glu217_Asp220del;Asp222_Cys223delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 706,
          "referenceAllele": "",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.-381dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:n.-381dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 706,
          "referenceAllele": "",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.581dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Ala195SerfsTer14",
        "hgvsWellDefined": "NP_001352064.1:p.[Ala195Ser;Gly197_Ala198delinsArgCys;Val200_Leu209delinsCysGlnPro;Trp211_Tyr215delinsPro;Glu217_Asp220del;Asp222_Cys223delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 706,
          "referenceAllele": "",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.706dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.563+143dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}