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      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000534644.5:n.16C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS359222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000611494.4:c.7C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484546.1:p.Leu3Ile",
        "hgvsWellDefined": "ENSP00000484546.1:p.Leu3Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319145",
      "coordinates": [
        {
          "allele": "A",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.3:c.7C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Leu3Ile",
        "hgvsWellDefined": "NP_000382.3:p.Leu3Ile"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319145",
      "coordinates": [
        {
          "allele": "A",
          "end": 29,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.7C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Leu3Ile",
        "hgvsWellDefined": "NP_000382.3:p.Leu3Ile"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.7C>A"
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        }
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  ],
  "type": "nucleotide"
}