{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580490034",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 7,
          "referenceAllele": "L",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003585",
      "geneNCBI_id": 2177,
      "geneSymbol": "FANCD2",
      "hgvs": [
        "NP_149075.2:p.Leu7Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351715562",
          "hgvs": "NM_033084.6:c.20T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180033"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2282854[alleleid]",
        "alleleId": 2282854,
        "preferredName": "NM_001018115.3(FANCD2):c.20T>A (p.Leu7Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2288730",
        "RCV": [
          "RCV002841636"
        ],
        "variationId": 2288730
      }
    ]
  },
  "type": "amino-acid"
}