{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826997234",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "P",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NP_001305685.1:p.Pro216Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA337003",
          "hgvs": "NM_001318756.1:c.646C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640078"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213225[alleleid]",
        "alleleId": 213225,
        "preferredName": "NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216831",
        "RCV": [
          "RCV000197156",
          "RCV001120255",
          "RCV001195228",
          "RCV002515467",
          "RCV003977549"
        ],
        "variationId": 216831
      }
    ]
  },
  "type": "amino-acid"
}