{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA295237",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Gly343Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011866",
          "hgvs": "NM_000138.5:c.1027G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392347835",
          "hgvs": "NM_000138.5:c.1027G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171181[alleleid]",
        "alleleId": 171181,
        "preferredName": "NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161244",
        "RCV": [
          "RCV000148500",
          "RCV000181421",
          "RCV000284823",
          "RCV000315057",
          "RCV000364336",
          "RCV000393539",
          "RCV000307377",
          "RCV000463596",
          "RCV000393542",
          "RCV000659507",
          "RCV000588674"
        ],
        "variationId": 161244
      }
    ]
  },
  "type": "amino-acid"
}