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          "allele": "T",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.1867G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Glu623Ter",
        "hgvsWellDefined": "ENSP00000483570.1:p.Glu623_Ser693delinsIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029068",
      "coordinates": [
        {
          "allele": "T",
          "end": 1958,
          "referenceAllele": "G",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.1765G>T",
        "LRG_128t1:c.1765G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Glu589Ter",
        "hgvsWellDefined": "NP_000052.1:p.Glu589_Ser659delinsIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692241",
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
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      ],
      "gene": "http://reg.genome.network/gene/GN001133",
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      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.1867G>T"
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      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Glu623Ter",
        "hgvsWellDefined": "NP_001274273.1:p.Glu623_Ser693delinsIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742848",
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "G",
          "start": 1594
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      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.1237G>T"
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      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Glu413Ter",
        "hgvsWellDefined": "NP_001274274.1:p.Glu413_Ser483delinsIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029068",
      "coordinates": [
        {
          "allele": "T",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
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      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1765G>T"
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      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Glu589Ter",
        "hgvsWellDefined": "NP_000052.1:p.Glu589_Ser659delinsIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1765G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Glu589Ter"
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          "RefSeq": {
            "hgvs": "NP_000052.1:p.Glu589Ter"
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        }
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    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692241",
      "coordinates": [
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          "end": 2114,
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      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Glu623Ter",
        "hgvsWellDefined": "NP_001274273.1:p.Glu623_Ser693delinsIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742848",
      "coordinates": [
        {
          "allele": "T",
          "end": 1562,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1237G>T"
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      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Glu413Ter",
        "hgvsWellDefined": "NP_001274274.1:p.Glu413_Ser483delinsIleTyrSerLeuGlyLysMetProTyrGluArgPheThrAsnSerGluThrAlaGluHisIleAlaGlnGlyLeuArgLeuTyrArgProHisLeuAlaSerGluLysValTyrThrIleMetTyrSerCysTrpHisGluLysAlaAspGluArgProThrPheLysIleLeuLeuSerAsnIleLeuAspValMetAspGluGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}