{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 555,
          "referenceAllele": "R",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NP_000349.1:p.Arg555Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119119",
          "hgvs": "NM_000358.3:c.1663C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146902"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22905[alleleid]",
        "alleleId": 22905,
        "preferredName": "NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7866",
        "RCV": [
          "RCV000008315",
          "RCV002227439",
          "RCV002288474",
          "RCV003329228"
        ],
        "variationId": 7866
      }
    ]
  },
  "type": "amino-acid"
}