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        "hgvsWellDefined": "NP_001355201.1:p.Gly249Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828287746",
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "G",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001368273.1:c.646G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355202.1:p.Gly216Arg",
        "hgvsWellDefined": "NP_001355202.1:p.Gly216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691412"
    }
  ],
  "type": "nucleotide"
}