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      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:p.Glu420Ter",
        "hgvsWellDefined": "XP_011518606.1:p.Glu420_Lys464delinsPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_001747940.2:n.1555G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_002957158.1:n.1757G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206104",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.5:c.1390G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Glu464Ter",
        "hgvsWellDefined": "NP_000534.3:p.Glu464_Cys631delinsPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662482",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1390G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1390G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Glu464Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Glu464Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825288650",
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.3:c.1387G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Glu463Ter",
        "hgvsWellDefined": "NP_001007594.2:p.Glu463_Cys630delinsPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580199028",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.1390G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:p.Glu464Ter",
        "hgvsWellDefined": "NP_001305016.1:p.Glu464_Lys508delinsPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826979048",
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.469G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Glu157Ter",
        "hgvsWellDefined": "NP_001305017.1:p.Glu157_Cys324delinsPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169447",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "G",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.1258G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Glu420Ter",
        "hgvsWellDefined": "NP_001352064.1:p.Glu420_Cys587delinsPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1343G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.862G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}