{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827507272",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 405,
          "referenceAllele": "R",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023352",
      "geneNCBI_id": 10464,
      "geneSymbol": "PIBF1",
      "hgvs": [
        "NP_001336584.1:p.Arg405Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA210261",
          "hgvs": "NM_001349655.2:c.1214G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625316"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214342[alleleid]",
        "alleleId": 214342,
        "preferredName": "NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217689",
        "RCV": [
          "RCV000201558",
          "RCV000515458",
          "RCV001169935",
          "RCV002057037"
        ],
        "variationId": 217689
      }
    ]
  },
  "type": "amino-acid"
}