{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA281767",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "R",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Arg650Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA012686",
          "hgvs": "NM_000138.5:c.1948C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44706[alleleid]",
        "alleleId": 44706,
        "preferredName": "NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36042",
        "RCV": [
          "RCV000029702",
          "RCV000493360",
          "RCV000507859",
          "RCV001798013",
          "RCV000763357",
          "RCV000631908"
        ],
        "variationId": 36042
      }
    ]
  },
  "type": "amino-acid"
}