{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499267797",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 222,
          "referenceAllele": "R",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003084",
      "geneNCBI_id": 1855,
      "geneSymbol": "DVL1",
      "hgvs": [
        "NP_004412.2:p.Arg222Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA520548",
          "hgvs": "NM_004421.3:c.665G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170124"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015516[alleleid]",
        "alleleId": 1015516,
        "preferredName": "NM_001330311.2(DVL1):c.665G>A (p.Arg222Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030794",
        "RCV": [
          "RCV001332450",
          "RCV001859294"
        ],
        "variationId": 1030794
      }
    ]
  },
  "type": "amino-acid"
}