{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915984103",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 814,
          "referenceAllele": "T",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_056258.1:p.Thr814Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8618564",
          "hgvs": "NM_015443.4:c.2441C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399980471",
          "hgvs": "NM_015443.4:c.2440A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174558"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=328897[alleleid]",
        "alleleId": 328897,
        "preferredName": "NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/323770",
        "RCV": [
          "RCV000441779",
          "RCV000551684",
          "RCV003243079"
        ],
        "variationId": 323770
      }
    ]
  },
  "type": "amino-acid"
}