{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826434212",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "referenceAllele": "P",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NP_001244087.1:p.Pro206Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4485523",
          "hgvs": "NM_001257158.2:c.616C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160012"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301936[alleleid]",
        "alleleId": 301936,
        "preferredName": "NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/358942",
        "RCV": [
          "RCV000483238",
          "RCV000878420",
          "RCV001261666",
          "RCV001702359",
          "RCV003922590"
        ],
        "variationId": 358942
      }
    ]
  },
  "type": "amino-acid"
}