{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645506858",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1001,
          "referenceAllele": "P",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_001180395.1:p.Pro1001Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16607657",
          "hgvs": "NM_001193466.2:c.3002C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156866"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376086[alleleid]",
        "alleleId": 376086,
        "preferredName": "NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379187",
        "RCV": [
          "RCV001066773",
          "RCV001720011",
          "RCV004022309"
        ],
        "variationId": 379187
      }
    ]
  },
  "type": "amino-acid"
}