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        "active": false,
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        {
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        {
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        {
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        {
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    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS081313"
    },
    {
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        {
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      ],
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    {
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        {
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    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS081316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 6139
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      ],
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        {
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        {
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        {
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        {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN025801",
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      "hgvs": [
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    },
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        {
          "allele": "T",
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          "start": 9095
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        {
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        {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS563984"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS563985"
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        {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS579857"
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    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS579858"
    },
    {
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        {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS608055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499256979",
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        {
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      "gene": "http://reg.genome.network/gene/GN025801",
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      "proteinEffect": {
        "hgvs": "NP_001371661.1:p.Arg2958Ter",
        "hgvsWellDefined": "NP_001371661.1:p.Arg2958_Leu3251delinsLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.8872C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.8872C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Arg2958Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Arg2958Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA277714",
      "coordinates": [
        {
          "allele": "T",
          "end": 8889,
          "referenceAllele": "C",
          "start": 8888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.4:c.8710C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Arg2904Ter",
        "hgvsWellDefined": "NP_075561.3:p.Arg2904_Leu3197delinsLysGluArgMetAlaLysTyrLeuAsnGluLeuAlaGluLysArgGlyGlnGluHisAspProPheCysProArgSerAsnProLeuTyrMetThrSerArgGluIleArgLeuArgGlnLysMetLysHisGluLysAspArgLeuLeuLeuSerGluHisTyrSerArgArgIleSerGlnAlaTyrGlyLeuMetAsnGluLeuLeuSerGluSerValGlnLeuProThrLeuProGlnLysProLeuProAsnLysProSerProThrGlnSerSerSerCysGlnHisCysProSerProArgGlyGluAsnGlnHisGlyHisSerPheLeuIleAsnArgProGlyLysValLysTyrMetSerLysProSerTyrIleHisLysArgLysSerPheGlyGlnProGlnGlySerProTrpProHisGlyThrAlaThrPheThrIleGlnLysLysAlaGlyGlyAlaLysAlaAlaValArgLysAlaThrGlnSerProValThrPheGlnLysGlySerAsnAlaProCysHisSerLeuGlnHisThrLysLysHisGlySerAlaGlyLeuAlaProGlnThrLysGlnValCysValGluTyrGluArgGluGluThrValValSerProTrpThrIleProSerGluIleHisLysIleLeuHisGluSerHisAsnSerLeuLeuGlnAspLeuSerProThrGluGluGluGluProGluHisProPheGlyValGlyGlyValAspSerValSerGluSerThrGlySerIleLeuSerLysLeuAspTrpAsnAlaIleGluAspMetValAlaSerValGluAspGlnGlyLeuSerValHisTrpAlaLeuAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728617"
    }
  ],
  "type": "nucleotide"
}