{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645510427",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 743,
          "referenceAllele": "R",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Arg743His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA047216",
          "hgvs": "NM_000138.5:c.2228G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=433560[alleleid]",
        "alleleId": 433560,
        "preferredName": "NM_000138.5(FBN1):c.2228G>A (p.Arg743His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/439715",
        "RCV": [
          "RCV000507032",
          "RCV001176834",
          "RCV001857268",
          "RCV002481638",
          "RCV004003558",
          "RCV004535641"
        ],
        "variationId": 439715
      }
    ]
  },
  "type": "amino-acid"
}