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        "hgvsWellDefined": "NP_001007594.2:p.Arg541_Cys630delinsGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1769,
          "referenceAllele": "C",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.*117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:n.*117C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826979150",
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001305017.1:p.Arg235_Cys324delinsGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169688",
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.1492C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Arg498Ter",
        "hgvsWellDefined": "NP_001352064.1:p.Arg498_Cys587delinsGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.1116C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}