{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658800480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Cys494Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA392342805",
          "hgvs": "NM_000138.5:c.1481G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392342813",
          "hgvs": "NM_000138.5:c.1480T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493902[alleleid]",
        "alleleId": 493902,
        "preferredName": "NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/502478",
        "RCV": [
          "RCV000594033",
          "RCV000663463",
          "RCV002531108"
        ],
        "variationId": 502478
      }
    ]
  },
  "type": "amino-acid"
}