{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916072017",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023791",
      "geneNCBI_id": 64423,
      "geneSymbol": "INF2",
      "hgvs": [
        "NP_116103.1:p.Cys104Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129509",
          "hgvs": "NM_032714.3:c.310T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39821[alleleid]",
        "alleleId": 39821,
        "preferredName": "NM_022489.4(INF2):c.310T>C (p.Cys104Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30864",
        "RCV": [
          "RCV000023849",
          "RCV003488347",
          "RCV003764633"
        ],
        "variationId": 30864
      }
    ]
  },
  "type": "amino-acid"
}