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  "communityStandardTitle": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
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      "@id": "http://reg.genome.network/allele/PA2825748699",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 5892
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
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      "@id": "http://reg.genome.network/allele/PA2825750963",
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          "start": 5955
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      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
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      "gene": "http://reg.genome.network/gene/GN003097",
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      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
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        "hgvsWellDefined": "NP_001124453.1:p.Glu1871_Ser2118delinsLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
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    {
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      "gene": "http://reg.genome.network/gene/GN003097",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001124456.1:p.Glu1841_Ser2088delinsLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768403",
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN003097",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001124457.1:p.Glu1851_Ser2098delinsLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770622",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN003097",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu1820Ter",
        "hgvsWellDefined": "NP_001124458.1:p.Glu1820_Ser2067delinsLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA222189",
      "coordinates": [
        {
          "allele": "T",
          "end": 5935,
          "referenceAllele": "G",
          "start": 5934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.5497G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu1833Ter",
        "hgvsWellDefined": "NP_003485.1:p.Glu1833_Ser2080delinsLysMetSerAspIleTyrValLysGlyTrpMetIleGlyPheGluGluHisLysGlnLysThrAspValHisTyrArgSerLeuGlyGlyGluGlyAsnPheAsnTrpArgPheIlePheProPheAspTyrLeuProAlaGluGlnValCysThrIleAlaLysLysAspAlaPheTrpArgLeuAspLysThrGluSerLysIleProAlaArgValValPheGlnIleTrpAspAsnAspLysPheSerPheAspAspPheLeuGlySerLeuGlnLeuAspLeuAsnArgMetProLysProAlaLysThrAlaLysLysCysSerLeuAspGlnLeuAspAspAlaPheHisProGluTrpPheValSerLeuPheGluGlnLysThrValLysGlyTrpTrpProCysValAlaGluGluGlyGluLysLysIleLeuAlaGlyLysLeuGluMetThrLeuGluIleValAlaGluSerGluHisGluGluArgProAlaGlyGlnGlyArgAspGluProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5497G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5497G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu1833Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu1833Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}