{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580171285",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 399,
          "referenceAllele": "Q",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001511",
      "geneNCBI_id": 842,
      "geneSymbol": "CASP9",
      "hgvs": [
        "NP_001220.2:p.Gln399His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA614336",
          "hgvs": "NM_001229.5:c.1197G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338562534",
          "hgvs": "NM_001229.5:c.1197G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2249406[alleleid]",
        "alleleId": 2249406,
        "preferredName": "NM_001229.5(CASP9):c.1197G>T (p.Gln399His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2263887",
        "RCV": [
          "RCV004120196"
        ],
        "variationId": 2263887
      }
    ]
  },
  "type": "amino-acid"
}