{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827936714",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NP_001341729.1:p.Cys230Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247034",
          "hgvs": "NM_001354800.1:c.688T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195558[alleleid]",
        "alleleId": 195558,
        "preferredName": "NM_000162.5(GCK):c.688T>C (p.Cys230Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198397",
        "RCV": [
          "RCV000711783",
          "RCV002051823",
          "RCV002463657",
          "RCV002509283",
          "RCV003445614"
        ],
        "variationId": 198397
      }
    ]
  },
  "type": "amino-acid"
}