{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA278806",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "Y",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001736",
      "geneNCBI_id": 998,
      "geneSymbol": "CDC42",
      "hgvs": [
        "NP_001782.1:p.Tyr64Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278804",
          "hgvs": "NM_001791.4:c.191A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167679"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215784[alleleid]",
        "alleleId": 215784,
        "preferredName": "NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218950",
        "RCV": [
          "RCV000203307",
          "RCV000489915",
          "RCV001266021",
          "RCV001291421"
        ],
        "variationId": 218950
      }
    ]
  },
  "type": "amino-acid"
}