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      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Gln243Ter",
        "hgvsWellDefined": "NP_001358525.1:p.Gln243_Glu518delinsCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.727C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.727C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Gln243Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Gln243Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830293671",
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.727C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Gln243Ter",
        "hgvsWellDefined": "NP_689991.1:p.Gln243_Glu518delinsCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830293671",
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.727C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Gln243Ter",
        "hgvsWellDefined": "NP_689991.1:p.Gln243_Glu518delinsCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}