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        "hgvsWellDefined": "NP_001244303.1:p.Gln243_Pro574delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657788",
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "C",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Gln274Ter",
        "hgvsWellDefined": "NP_001269553.1:p.Gln274_Arg491delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659049",
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1063C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001269554.1:p.Gln355_Arg572delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
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      "@id": "http://reg.genome.network/allele/PA2826660307",
      "coordinates": [
        {
          "allele": "T",
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          "start": 1311
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001269555.1:p.Gln355_Met614delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217717",
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
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      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
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      "hgvs": [
        "NM_005572.3:c.1063C>T",
        "LRG_254t1:c.1063C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005563.1:p.Gln355_Arg572delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217718",
      "coordinates": [
        {
          "allele": "T",
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          "start": 1311
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      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
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      "hgvs": [
        "NM_170707.3:c.1063C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_733821.1:p.Gln355_Met664delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217719",
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_733822.1:p.Gln355_Met634delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
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          "start": 808
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN006636",
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      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
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        "hgvsWellDefined": "XP_011507836.1:p.Gln147_Met456delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
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      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217718",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN006636",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_733821.1:p.Gln355_Met664delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1063C>T"
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          "RefSeq": {
            "hgvs": "NM_170707.4:c.1063C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Gln355Ter"
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          "RefSeq": {
            "hgvs": "NP_733821.1:p.Gln355Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443370",
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001244303.1:p.Gln243_Pro574delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660307",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Gln355Ter",
        "hgvsWellDefined": "NP_001269555.1:p.Gln355_Met614delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657788",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Gln274Ter",
        "hgvsWellDefined": "NP_001269553.1:p.Gln274_Arg491delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659049",
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Gln355Ter",
        "hgvsWellDefined": "NP_001269554.1:p.Gln355_Arg572delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217717",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Gln355Ter",
        "hgvsWellDefined": "NP_005563.1:p.Gln355_Arg572delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1063C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1063C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Gln355Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Gln355Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA217719",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Gln355Ter",
        "hgvsWellDefined": "NP_733822.1:p.Gln355_Met634delinsLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}