{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645425120",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 933,
          "referenceAllele": "I",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NP_060420.2:p.Ile933Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8814346",
          "hgvs": "NM_017950.4:c.2798T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403090[alleleid]",
        "alleleId": 403090,
        "preferredName": "NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/414637",
        "RCV": [
          "RCV000463546",
          "RCV001421091"
        ],
        "variationId": 414637
      }
    ]
  },
  "type": "amino-acid"
}