{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828736030",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 207,
          "referenceAllele": "R",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NP_001364959.1:p.Arg207Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7789495",
          "hgvs": "NM_001378030.1:c.620G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737770"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=844276[alleleid]",
        "alleleId": 844276,
        "preferredName": "NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/837345",
        "RCV": [
          "RCV001038657",
          "RCV003363055"
        ],
        "variationId": 837345
      }
    ]
  },
  "type": "amino-acid"
}