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        "hgvsWellDefined": "NP_000234.1:p.Gln504_Asp781delinsAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.1:p.Gln293Ter",
        "hgvsWellDefined": "NP_001185465.1:p.Gln293_Cys445delinsAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerArgAlaAspTrpArgSerGlyThrCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XM_017023236.2:c.1507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878725.1:p.Gln503Ter",
        "hgvsWellDefined": "XP_016878725.1:p.Gln503_Asp780delinsAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XR_001751903.1:n.1699C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229949",
      "coordinates": [
        {
          "allele": "T",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.3:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Gln504Ter",
        "hgvsWellDefined": "NP_000234.1:p.Gln504_Asp781delinsAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.1510C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.1510C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Gln504Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Gln504Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826221762",
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.2:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.2:p.Gln293Ter",
        "hgvsWellDefined": "NP_001185465.2:p.Gln293_Cys445delinsAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerGlyAlaAspTrpArgSerGlyThrCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679391"
    }
  ],
  "type": "nucleotide"
}