{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 718,
          "referenceAllele": "R",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "NP_000086.2:p.Arg718Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340882",
          "hgvs": "NM_000095.3:c.2152C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146647"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24237[alleleid]",
        "alleleId": 24237,
        "preferredName": "NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9198",
        "RCV": [
          "RCV000009776",
          "RCV001268837",
          "RCV001289465",
          "RCV002054432"
        ],
        "variationId": 9198
      }
    ]
  },
  "type": "amino-acid"
}