{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA180515",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Gly2618Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017420",
          "hgvs": "NM_000138.5:c.7852G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392323396",
          "hgvs": "NM_000138.5:c.7852G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51604[alleleid]",
        "alleleId": 51604,
        "preferredName": "NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42434",
        "RCV": [
          "RCV000035279",
          "RCV000154182",
          "RCV000464816",
          "RCV000765219",
          "RCV001184743"
        ],
        "variationId": 42434
      }
    ]
  },
  "type": "amino-acid"
}