{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250370",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1832,
          "referenceAllele": "P",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NP_001184033.1:p.Pro1832Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250368",
          "hgvs": "NM_001197104.1:c.5494C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157157"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205767[alleleid]",
        "alleleId": 205767,
        "preferredName": "NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209168",
        "RCV": [
          "RCV000191101"
        ],
        "variationId": 209168
      }
    ]
  },
  "type": "amino-acid"
}