{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827039066",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 47,
          "referenceAllele": "I",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003585",
      "geneNCBI_id": 2177,
      "geneSymbol": "FANCD2",
      "hgvs": [
        "NP_001306913.1:p.Ile47Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2249115",
          "hgvs": "NM_001319984.1:c.139A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640150"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1890850[alleleid]",
        "alleleId": 1890850,
        "preferredName": "NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2161141",
        "RCV": [
          "RCV003078425"
        ],
        "variationId": 2161141
      }
    ]
  },
  "type": "amino-acid"
}