{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828043762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 594,
          "referenceAllele": "L",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008804",
      "geneNCBI_id": 5159,
      "geneSymbol": "PDGFRB",
      "hgvs": [
        "NP_001341945.1:p.Leu594Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA343798",
          "hgvs": "NM_001355016.2:c.1781T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625875"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48187[alleleid]",
        "alleleId": 48187,
        "preferredName": "NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39588",
        "RCV": [
          "RCV000032788"
        ],
        "variationId": 39588
      }
    ]
  },
  "type": "amino-acid"
}