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        "hgvs": "NP_001124451.1:p.Glu2039Ter",
        "hgvsWellDefined": "NP_001124451.1:p.Glu2039_Ser2111delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
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      "@id": "http://reg.genome.network/allele/PA2825757938",
      "coordinates": [
        {
          "allele": "T",
          "end": 6511,
          "referenceAllele": "G",
          "start": 6510
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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_001124452.1:p.Glu2025_Ser2097delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
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      "@id": "http://reg.genome.network/allele/PA2825760208",
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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": {
        "hgvs": "NP_001124453.1:p.Glu2046Ter",
        "hgvsWellDefined": "NP_001124453.1:p.Glu2046_Ser2118delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761865",
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        {
          "allele": "T",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN003097",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu2040Ter",
        "hgvsWellDefined": "NP_001124454.1:p.Glu2040_Ser2112delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
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    {
      "@id": "http://reg.genome.network/allele/PA2825764102",
      "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_001124455.1:p.Glu2030Ter",
        "hgvsWellDefined": "NP_001124455.1:p.Glu2030_Ser2102delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
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    {
      "@id": "http://reg.genome.network/allele/PA2825766339",
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN003097",
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      "geneSymbol": "DYSF",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu2016Ter",
        "hgvsWellDefined": "NP_001124456.1:p.Glu2016_Ser2088delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768575",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN003097",
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      "geneSymbol": "DYSF",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu2026Ter",
        "hgvsWellDefined": "NP_001124457.1:p.Glu2026_Ser2098delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770792",
      "coordinates": [
        {
          "allele": "T",
          "end": 6127,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.5983G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu1995Ter",
        "hgvsWellDefined": "NP_001124458.1:p.Glu1995_Ser2067delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829469144",
      "coordinates": [
        {
          "allele": "T",
          "end": 6460,
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      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.6022G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu2008Ter",
        "hgvsWellDefined": "NP_003485.1:p.Glu2008_Ser2080delinsProAsnMetAsnProLysLeuGluAspProArgArgProAspThrSerPheLeuTrpPheThrSerProTyrLysThrMetLysPheIleLeuTrpArgArgPheArgTrpAlaIleIleLeuPheIleIleLeuPheIleLeuLeuLeuPheLeuAlaIlePheIleTyrAlaPheProAsnTyrAlaAlaMetLysLeuValLysProPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.6022G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.6022G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu2008Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu2008Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}