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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.2485G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.2485G>C"
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        },
        "protein": {
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            "hgvs": "ENSP00000288135.6:p.Ala829Pro"
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            "hgvs": "NP_000213.1:p.Ala829Pro"
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        }
      }
    },
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      "@id": "http://reg.genome.network/allele/PA2825523639",
      "coordinates": [
        {
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.2:c.2473G>C"
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        "hgvsWellDefined": "NP_001087241.1:p.Ala825Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS711888"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385284.1:c.2488G>C"
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      "referenceSequence": "http://reg.genome.network/refseq/RS723620"
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    {
      "@id": "http://reg.genome.network/allele/PA2828967322",
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      "gene": "http://reg.genome.network/gene/GN006342",
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        "hgvsWellDefined": "NP_001372214.1:p.Ala828Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS723621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828971203",
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        {
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      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
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      "hgvs": [
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        "hgvsWellDefined": "NP_001372215.1:p.Ala824Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS723622"
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    {
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      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001372217.1:p.Ala826Pro",
        "hgvsWellDefined": "NP_001372217.1:p.Ala826Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS723624"
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    {
      "@id": "http://reg.genome.network/allele/PA2829021937",
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      "gene": "http://reg.genome.network/gene/GN006342",
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      "geneSymbol": "KIT",
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        "hgvsWellDefined": "NP_001372219.1:p.Ala829Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS723626"
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    {
      "@id": "http://reg.genome.network/allele/PA2829023232",
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      "gene": "http://reg.genome.network/gene/GN006342",
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        "hgvsWellDefined": "NP_001372221.1:p.Ala825Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS723628"
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  "type": "nucleotide"
}