{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741845382",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 445,
          "referenceAllele": "Q",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NP_001230672.1:p.Gln445Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374106290",
          "hgvs": "NM_001243743.2:c.1333C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159041"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2748285[alleleid]",
        "alleleId": 2748285,
        "preferredName": "NM_000136.3(FANCC):c.1333C>G (p.Gln445Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2580699",
        "RCV": [
          "RCV003329894"
        ],
        "variationId": 2580699
      }
    ]
  },
  "type": "amino-acid"
}