{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA358666",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 164,
          "referenceAllele": "R",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NP_057306.2:p.Arg164Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358665",
          "hgvs": "NM_016222.3:c.490C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175067"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226419[alleleid]",
        "alleleId": 226419,
        "preferredName": "NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224638",
        "RCV": [
          "RCV000210264",
          "RCV001818508"
        ],
        "variationId": 224638
      }
    ]
  },
  "type": "amino-acid"
}