{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645405817",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "I",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Ile1974Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA055867",
          "hgvs": "NM_000138.5:c.5921T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=258851[alleleid]",
        "alleleId": 258851,
        "preferredName": "NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/264487",
        "RCV": [
          "RCV000663834",
          "RCV001093333",
          "RCV001183769",
          "RCV002487161",
          "RCV002518732"
        ],
        "variationId": 264487
      }
    ]
  },
  "type": "amino-acid"
}