{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658814837",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "referenceAllele": "V",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026684",
      "geneNCBI_id": 80217,
      "geneSymbol": "CFAP43",
      "hgvs": [
        "NP_079421.5:p.Val347Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5681047",
          "hgvs": "NM_025145.7:c.1040T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178753"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513775[alleleid]",
        "alleleId": 513775,
        "preferredName": "NM_025145.7(CFAP43):c.1040T>C (p.Val347Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523149",
        "RCV": [
          "RCV000626422"
        ],
        "variationId": 523149
      }
    ]
  },
  "type": "amino-acid"
}