{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101719",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NP_001990.2:p.Cys1253Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281518",
          "hgvs": "NM_001999.4:c.3759T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15566[alleleid]",
        "alleleId": 15566,
        "preferredName": "NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/527",
        "RCV": [
          "RCV000000556"
        ],
        "variationId": 527
      }
    ]
  },
  "type": "amino-acid"
}