{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA126180",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 32,
          "referenceAllele": "R",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "NP_001701.2:p.Arg32Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126178",
          "hgvs": "NM_001710.6:c.95G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167600"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31114[alleleid]",
        "alleleId": 31114,
        "preferredName": "NM_001710.5(CFB):c.95G>A (p.Arg32Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16075",
        "RCV": [
          "RCV000017454",
          "RCV000017453",
          "RCV000017458",
          "RCV000259759",
          "RCV000319518",
          "RCV000281261",
          "RCV000455762",
          "RCV001515636",
          "RCV001154197",
          "RCV002504800",
          "RCV002293980"
        ],
        "variationId": 16075
      }
    ]
  },
  "type": "amino-acid"
}