{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499292586",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 96,
          "referenceAllele": "T",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "NP_114429.2:p.Thr96Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9528742",
          "hgvs": "NM_032040.5:c.287C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179329"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018609[alleleid]",
        "alleleId": 1018609,
        "preferredName": "NM_032040.5(CCDC8):c.287C>G (p.Thr96Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028422",
        "RCV": [
          "RCV001329460",
          "RCV001859260",
          "RCV002546324"
        ],
        "variationId": 1028422
      }
    ]
  },
  "type": "amino-acid"
}