{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA222000",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 396,
          "referenceAllele": "P",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NP_003473.3:p.Pro396Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221999",
          "hgvs": "NM_003482.4:c.1187C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100053[alleleid]",
        "alleleId": 100053,
        "preferredName": "NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94153",
        "RCV": [
          "RCV000080116",
          "RCV000330812",
          "RCV001818244",
          "RCV004542763"
        ],
        "variationId": 94153
      }
    ]
  },
  "type": "amino-acid"
}