{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA123977",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 58,
          "referenceAllele": "H",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NP_001001890.1:p.His58Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123975",
          "hgvs": "NM_001001890.3:c.172C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29508[alleleid]",
        "alleleId": 29508,
        "preferredName": "NM_001754.5(RUNX1):c.253C>A (p.His85Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14469",
        "RCV": [
          "RCV000015556",
          "RCV000015555",
          "RCV000549373"
        ],
        "variationId": 14469
      }
    ]
  },
  "type": "amino-acid"
}