{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916067581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
        "NP_061176.4:p.Gly729Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130360",
          "hgvs": "NM_018706.7:c.2185G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376013404",
          "hgvs": "NM_018706.7:c.2185G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674431"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48163[alleleid]",
        "alleleId": 48163,
        "preferredName": "NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39564",
        "RCV": [
          "RCV000032764",
          "RCV000238689",
          "RCV000791040",
          "RCV003319173",
          "RCV002513307",
          "RCV004017273",
          "RCV003447099"
        ],
        "variationId": 39564
      }
    ]
  },
  "type": "amino-acid"
}