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          "startIntronDirection": "-",
          "startIntronOffset": 2273
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      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377950.1:c.689-2273T>C"
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      "proteinEffect": {
        "hgvs": "NP_001364879.1:n.689-2273T>C"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721332"
    },
    {
      "coordinates": [
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          "end": 348,
          "endIntronDirection": "-",
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      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377951.1:c.191-2273T>C"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS721333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829930848",
      "coordinates": [
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          "allele": "C",
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      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.4:c.2334T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Asp778="
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      "referenceSequence": "http://reg.genome.network/refseq/RS728429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.2334T>C"
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  ],
  "type": "nucleotide"
}