{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828286106",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 246,
          "referenceAllele": "E",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NP_001355073.1:p.Glu246Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3732657",
          "hgvs": "NM_001368144.1:c.738G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA363511265",
          "hgvs": "NM_001368144.1:c.738G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27211[alleleid]",
        "alleleId": 27211,
        "preferredName": "NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12172",
        "RCV": [
          "RCV000012954",
          "RCV003234903"
        ],
        "variationId": 12172
      }
    ]
  },
  "type": "amino-acid"
}