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        "hgvsWellDefined": "NP_001171896.1:p.Glu367_Cys468delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
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        "hgvsWellDefined": "NP_001341533.1:p.Glu425_Cys526delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
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      "MANE": {
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            "hgvs": "NP_001341533.1:p.Glu425Ter"
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      "gene": "http://reg.genome.network/gene/GN007105",
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        "hgvsWellDefined": "NP_001341534.1:p.Glu424_Cys525delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
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      "gene": "http://reg.genome.network/gene/GN007105",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341536.1:p.Glu402_Cys503delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
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    {
      "@id": "http://reg.genome.network/allele/PA2827882803",
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      "gene": "http://reg.genome.network/gene/GN007105",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
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      "@id": "http://reg.genome.network/allele/PA2830431439",
      "coordinates": [
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          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
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      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Glu312Ter",
        "hgvsWellDefined": "NP_937801.1:p.Glu312_Cys413delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432041",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN007105",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Glu419Ter",
        "hgvsWellDefined": "NP_937802.1:p.Glu419_Cys520delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433087",
      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN007105",
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        "hgvs": "NP_937820.1:p.Glu403Ter",
        "hgvsWellDefined": "NP_937820.1:p.Glu403_Cys504delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433593",
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
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      "@id": "http://reg.genome.network/allele/PA2825105659",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
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        "maneStatus": "MANE Plus Clinical",
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    },
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      "@id": "http://reg.genome.network/allele/PA2829651400",
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      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.1252G>T"
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      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Glu418Ter",
        "hgvsWellDefined": "NP_006713.1:p.Glu418_Cys519delinsProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}