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        "hgvsWellDefined": "NP_001258027.1:p.Gln280_Ala558delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020494"
    },
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      "@id": "http://reg.genome.network/allele/PA2826532732",
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        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
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        "NM_001271099.1:c.754C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001258028.1:p.Gln252_Ala530delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020495"
    },
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        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
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      ],
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        "hgvsWellDefined": "NP_001258029.1:p.Gln221_Ala499delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020496"
    },
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        {
          "allele": "T",
          "end": 873,
          "referenceAllele": "C",
          "start": 872
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033043"
    },
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        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040121"
    },
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        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084128"
    },
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        {
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          "end": 979,
          "referenceAllele": "C",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084129"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS523097"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523098"
    },
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS523099"
    },
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        {
          "allele": "T",
          "end": 2456,
          "referenceAllele": "C",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566596"
    },
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        {
          "allele": "T",
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566597"
    },
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          "referenceAllele": "C",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
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      ],
      "gene": "http://reg.genome.network/gene/GN017042",
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      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_017013239.1:c.712C>T"
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      "proteinEffect": {
        "hgvs": "XP_016868728.1:p.Gln238Ter",
        "hgvsWellDefined": "XP_016868728.1:p.Gln238_Ala516delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_017013240.1:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868729.1:p.Gln221Ter",
        "hgvsWellDefined": "XP_016868729.1:p.Gln221_Ala499delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825813159",
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001136033.3:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129505.1:p.Gln238Ter",
        "hgvsWellDefined": "NP_001129505.1:p.Gln238_Ala516delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532400",
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271096.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258025.1:p.Gln263Ter",
        "hgvsWellDefined": "NP_001258025.1:p.Gln263_Ala541delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532508",
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271097.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258026.1:p.Gln235Ter",
        "hgvsWellDefined": "NP_001258026.1:p.Gln235_Ala513delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532626",
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271098.2:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258027.1:p.Gln280Ter",
        "hgvsWellDefined": "NP_001258027.1:p.Gln280_Ala558delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532732",
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271099.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258028.1:p.Gln252Ter",
        "hgvsWellDefined": "NP_001258028.1:p.Gln252_Ala530delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532831",
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271100.2:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258029.1:p.Gln221Ter",
        "hgvsWellDefined": "NP_001258029.1:p.Gln221_Ala499delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828070268",
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362895.2:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349824.1:p.Gln318Ter",
        "hgvsWellDefined": "NP_001349824.1:p.Gln318_Ala596delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580232224",
      "coordinates": [
        {
          "allele": "T",
          "end": 1190,
          "referenceAllele": "C",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362896.2:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349825.1:p.Gln318Ter",
        "hgvsWellDefined": "NP_001349825.1:p.Gln318_Ala596delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828070435",
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362897.2:c.901C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349826.1:p.Gln301Ter",
        "hgvsWellDefined": "NP_001349826.1:p.Gln301_Ala579delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756694",
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_014281.5:c.790C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055096.2:p.Gln264Ter",
        "hgvsWellDefined": "NP_055096.2:p.Gln264_Ala542delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830154550",
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_078480.3:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_510965.1:p.Gln281Ter",
        "hgvsWellDefined": "NP_510965.1:p.Gln281_Ala559delinsAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699498",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000526683.6:c.841C>T"
          },
          "RefSeq": {
            "hgvs": "NM_078480.3:c.841C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434359.1:p.Gln281Ter"
          },
          "RefSeq": {
            "hgvs": "NP_510965.1:p.Gln281Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}