{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916015001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 910,
          "referenceAllele": "L",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NP_001273096.1:p.Leu910Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397438141",
          "hgvs": "NM_001286167.3:c.2728C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163244"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535379[alleleid]",
        "alleleId": 535379,
        "preferredName": "NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545113",
        "RCV": [
          "RCV000656367",
          "RCV000656369"
        ],
        "variationId": 545113
      }
    ]
  },
  "type": "amino-acid"
}