{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828815182",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "P",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_001366127.1:p.Pro710Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8618652",
          "hgvs": "NM_001379198.1:c.2128C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=328898[alleleid]",
        "alleleId": 328898,
        "preferredName": "NM_015443.4(KANSL1):c.2128C>A (p.Pro710Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2191842",
        "RCV": [
          "RCV002633019",
          "RCV004070610"
        ],
        "variationId": 2191842
      }
    ]
  },
  "type": "amino-acid"
}