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        "hgvs": "XP_016872171.1:p.Arg85Trp",
        "hgvsWellDefined": "XP_016872171.1:p.Arg85Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
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      ],
      "gene": "http://reg.genome.network/gene/GN026684",
      "geneNCBI_id": 80217,
      "geneSymbol": "CFAP43",
      "hgvs": [
        "XM_017016684.1:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872173.1:p.Arg85Trp",
        "hgvsWellDefined": "XP_016872173.1:p.Arg85Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 1526,
          "referenceAllele": "C",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026684",
      "geneNCBI_id": 80217,
      "geneSymbol": "CFAP43",
      "hgvs": [
        "XR_002957015.1:n.202+1526C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415202",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 370
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      ],
      "gene": "http://reg.genome.network/gene/GN026684",
      "geneNCBI_id": 80217,
      "geneSymbol": "CFAP43",
      "hgvs": [
        "NM_025145.7:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079421.5:p.Arg85Trp",
        "hgvsWellDefined": "NP_079421.5:p.Arg85Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357060.8:c.253C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025145.7:c.253C>T"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349568.3:p.Arg85Trp"
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}