{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826168563",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "R",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008820",
      "geneNCBI_id": 5173,
      "geneSymbol": "PDYN",
      "hgvs": [
        "NP_001177827.1:p.Arg215Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA257553",
          "hgvs": "NM_001190898.3:c.643C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33498[alleleid]",
        "alleleId": 33498,
        "preferredName": "NM_024411.5(PDYN):c.643C>T (p.Arg215Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18459",
        "RCV": [
          "RCV000018095"
        ],
        "variationId": 18459
      }
    ]
  },
  "type": "amino-acid"
}