{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA282239",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Cys166Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA015519",
          "hgvs": "NM_000138.5:c.497G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392446313",
          "hgvs": "NM_000138.5:c.496T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51547[alleleid]",
        "alleleId": 51547,
        "preferredName": "NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=510639[alleleid]",
        "alleleId": 510639,
        "preferredName": "NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42377",
        "RCV": [
          "RCV000035218"
        ],
        "variationId": 42377
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/519737",
        "RCV": [
          "RCV001382242",
          "RCV002314332"
        ],
        "variationId": 519737
      }
    ]
  },
  "type": "amino-acid"
}