{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA282203",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Cys1339Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014696",
          "hgvs": "NM_000138.5:c.4016G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392320556",
          "hgvs": "NM_000138.5:c.4015T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51516[alleleid]",
        "alleleId": 51516,
        "preferredName": "NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42346",
        "RCV": [
          "RCV000035185"
        ],
        "variationId": 42346
      }
    ]
  },
  "type": "amino-acid"
}