{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826185478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 835,
          "referenceAllele": "P",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_001180394.1:p.Pro835Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA399980190",
          "hgvs": "NM_001193465.2:c.2503C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156865"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=506128[alleleid]",
        "alleleId": 506128,
        "preferredName": "NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/508468",
        "RCV": [
          "RCV000601324",
          "RCV000694068"
        ],
        "variationId": 508468
      }
    ]
  },
  "type": "amino-acid"
}