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          "referenceAllele": "A",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.218A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Tyr73Phe",
        "hgvsWellDefined": "NP_001077076.1:p.Tyr73Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036704",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "A",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.473A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Tyr158Phe",
        "hgvsWellDefined": "NP_001341848.1:p.Tyr158Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}