{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658720636",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NP_001184033.1:p.Gly1007Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA229522191",
          "hgvs": "NM_001197104.1:c.3019G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157157"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424353[alleleid]",
        "alleleId": 424353,
        "preferredName": "NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430818",
        "RCV": [
          "RCV000578132",
          "RCV000988747"
        ],
        "variationId": 430818
      }
    ]
  },
  "type": "amino-acid"
}