{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826185938",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 419,
          "referenceAllele": "T",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NP_001180395.1:p.Thr419Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA399978559",
          "hgvs": "NM_001193466.2:c.1256C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399978561",
          "hgvs": "NM_001193466.2:c.1255A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156866"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=646122[alleleid]",
        "alleleId": 646122,
        "preferredName": "NM_015443.4(KANSL1):c.1256C>G (p.Thr419Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648661",
        "RCV": [
          "RCV000803432"
        ],
        "variationId": 648661
      }
    ]
  },
  "type": "amino-acid"
}