{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580451838",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 686,
          "referenceAllele": "R",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017906",
      "geneNCBI_id": 79009,
      "geneSymbol": "DDX50",
      "hgvs": [
        "NP_076950.1:p.Arg686Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5528958",
          "hgvs": "NM_024045.2:c.2057G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178160"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2205881[alleleid]",
        "alleleId": 2205881,
        "preferredName": "NM_024045.2(DDX50):c.2057G>A (p.Arg686Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2216396",
        "RCV": [
          "RCV004078318"
        ],
        "variationId": 2216396
      }
    ]
  },
  "type": "amino-acid"
}