{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139757070",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 367,
          "referenceAllele": "D",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026530",
      "geneNCBI_id": 220136,
      "geneSymbol": "CFAP53",
      "hgvs": [
        "NP_659457.2:p.Asp367Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8962203",
          "hgvs": "NM_145020.5:c.1101C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402437867",
          "hgvs": "NM_145020.5:c.1101C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181826"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=958474[alleleid]",
        "alleleId": 958474,
        "preferredName": "NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/969306",
        "RCV": [
          "RCV001244617",
          "RCV001812260",
          "RCV003294141"
        ],
        "variationId": 969306
      }
    ]
  },
  "type": "amino-acid"
}