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      "referenceSequence": "http://reg.genome.network/refseq/RS593461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825171607",
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "T",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.4:c.1207T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Tyr403His",
        "hgvsWellDefined": "NP_000434.1:p.Tyr403His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674848",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000649586.2:c.1207T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.1207T>C"
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        },
        "protein": {
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            "hgvs": "ENSP00000496956.2:p.Tyr403His"
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            "hgvs": "NP_000434.1:p.Tyr403His"
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        }
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    {
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          "end": 1260,
          "referenceAllele": "T",
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      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
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        "hgvsWellDefined": "NP_061337.1:p.Tyr403His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS698090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068175",
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
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        "hgvsWellDefined": "NP_061338.1:p.Tyr403His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728359"
    }
  ],
  "type": "nucleotide"
}