{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA280063",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 424,
          "referenceAllele": "Q",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NP_057440.2:p.Gln424Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280061",
          "hgvs": "NM_016356.5:c.1271A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175173"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171004[alleleid]",
        "alleleId": 171004,
        "preferredName": "NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161160",
        "RCV": [
          "RCV000157618",
          "RCV000185587"
        ],
        "variationId": 161160
      }
    ]
  },
  "type": "amino-acid"
}