{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA358443",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 238,
          "referenceAllele": "V",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NP_000491.4:p.Val238Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358442",
          "hgvs": "NM_000500.9:c.713T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147035"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27212[alleleid]",
        "alleleId": 27212,
        "preferredName": "NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12173",
        "RCV": [
          "RCV001269963",
          "RCV002298442",
          "RCV002250459"
        ],
        "variationId": 12173
      }
    ]
  },
  "type": "amino-acid"
}