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      "@id": "http://reg.genome.network/allele/PA916024374",
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.253G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Gly85Arg",
        "hgvsWellDefined": "NP_001307227.1:p.Gly85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}