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      "geneSymbol": "PTCH1",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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            "hgvs": "ENST00000437951.6:c.526C>T"
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Gln176Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Gln176Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.76C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Gln26Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.76C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Gln26Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.76C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Gln26Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036492",
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
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      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.331C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Gln111Ter",
        "hgvsWellDefined": "NP_001341848.1:p.Gln111_Leu183delinsHisLeuAspSerAlaLeuGlnAlaSerArgValHisValTyrMetTyrAsnArgGlnTrpLysLeuGluHisLeuCysTyrLysSerGlyGluLeuIleThrGluThrGlyTyrMetAspGlnIleIleGluTyrLeuTyrProCysLeuIleIleThrProLeuAspCysPheTrpGluGlyAlaLysLeuGlnSerGlyThrAlaTyrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}