{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA126186",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 9,
          "referenceAllele": "L",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "NP_001701.2:p.Leu9His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126184",
          "hgvs": "NM_001710.6:c.26T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167600"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31116[alleleid]",
        "alleleId": 31116,
        "preferredName": "NM_001710.6(CFB):c.26T>A (p.Leu9His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16077",
        "RCV": [
          "RCV000017457",
          "RCV000264554",
          "RCV000288622",
          "RCV000385220",
          "RCV000454952",
          "RCV001516300",
          "RCV001154195",
          "RCV002490378",
          "RCV004549374"
        ],
        "variationId": 16077
      }
    ]
  },
  "type": "amino-acid"
}