{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA126533",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1170,
          "referenceAllele": "R",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Arg1170His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014215",
          "hgvs": "NM_000138.5:c.3509G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31490[alleleid]",
        "alleleId": 31490,
        "preferredName": "NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16451",
        "RCV": [
          "RCV000154459",
          "RCV000148494",
          "RCV000242225",
          "RCV000290413",
          "RCV000297783",
          "RCV000340663",
          "RCV000305937",
          "RCV000357267",
          "RCV000360569",
          "RCV000589339",
          "RCV000767968",
          "RCV000845006",
          "RCV001084627",
          "RCV001837435",
          "RCV004532380"
        ],
        "variationId": 16451
      }
    ]
  },
  "type": "amino-acid"
}