{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA115458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 72,
          "referenceAllele": "Y",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002577",
      "geneNCBI_id": 1535,
      "geneSymbol": "CYBA",
      "hgvs": [
        "NP_000092.2:p.Tyr72His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115456",
          "hgvs": "NM_000101.4:c.214T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146653"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17302[alleleid]",
        "alleleId": 17302,
        "preferredName": "NM_000101.4(CYBA):c.214T>C (p.Tyr72His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2263",
        "RCV": [
          "RCV000002351",
          "RCV000249071",
          "RCV000989646",
          "RCV000736011",
          "RCV001826406",
          "RCV001723534"
        ],
        "variationId": 2263
      }
    ]
  },
  "type": "amino-acid"
}