{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099359",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 282,
          "referenceAllele": "R",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NP_001092744.1:p.Arg282His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117651",
          "hgvs": "NM_001099274.3:c.845G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151193"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20664[alleleid]",
        "alleleId": 20664,
        "preferredName": "NM_001099274.3(TINF2):c.845G>A (p.Arg282His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5625",
        "RCV": [
          "RCV000005978",
          "RCV000005979",
          "RCV001509450",
          "RCV001382425",
          "RCV002490324"
        ],
        "variationId": 5625
      }
    ]
  },
  "type": "amino-acid"
}