{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221095",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 270,
          "referenceAllele": "Q",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NP_000522.3:p.Gln270Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221094",
          "hgvs": "NM_000531.6:c.808C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147066"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99131[alleleid]",
        "alleleId": 99131,
        "preferredName": "NM_000531.6(OTC):c.808C>G (p.Gln270Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93224",
        "RCV": [
          "RCV000079088",
          "RCV001854395"
        ],
        "variationId": 93224
      }
    ]
  },
  "type": "amino-acid"
}