{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645434921",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 320,
          "referenceAllele": "R",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009153",
      "geneNCBI_id": 25953,
      "geneSymbol": "PNKD",
      "hgvs": [
        "NP_056303.3:p.Arg320Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2104161",
          "hgvs": "NM_015488.5:c.959G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174594"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=287562[alleleid]",
        "alleleId": 287562,
        "preferredName": "NM_015488.5(PNKD):c.959G>A (p.Arg320Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334328",
        "RCV": [
          "RCV000309771",
          "RCV000868563",
          "RCV004021798"
        ],
        "variationId": 334328
      }
    ]
  },
  "type": "amino-acid"
}