{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573186682",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2125,
          "referenceAllele": "P",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NP_001184033.1:p.Pro2125Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6304238",
          "hgvs": "NM_001197104.1:c.6374C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157157"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1498305[alleleid]",
        "alleleId": 1498305,
        "preferredName": "NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1461474",
        "RCV": [
          "RCV001965871",
          "RCV003134301"
        ],
        "variationId": 1461474
      }
    ]
  },
  "type": "amino-acid"
}