{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830008930",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "Y",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009153",
      "geneNCBI_id": 25953,
      "geneSymbol": "PNKD",
      "hgvs": [
        "NP_072094.1:p.Tyr269Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350542534",
          "hgvs": "NM_022572.4:c.806A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177904"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=964193[alleleid]",
        "alleleId": 964193,
        "preferredName": "NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/976065",
        "RCV": [
          "RCV001253244",
          "RCV003594124"
        ],
        "variationId": 976065
      }
    ]
  },
  "type": "amino-acid"
}