{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645392383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 379,
          "referenceAllele": "D",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NP_078805.3:p.Asp379Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1303777",
          "hgvs": "NM_024529.5:c.1137C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344077656",
          "hgvs": "NM_024529.5:c.1137C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178325"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=390959[alleleid]",
        "alleleId": 390959,
        "preferredName": "NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403889",
        "RCV": [
          "RCV000474303",
          "RCV002451061",
          "RCV003151770",
          "RCV003463837"
        ],
        "variationId": 403889
      }
    ]
  },
  "type": "amino-acid"
}