{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658810048",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2173,
          "referenceAllele": "S",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NP_003473.3:p.Ser2173Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6547247",
          "hgvs": "NM_003482.4:c.6518C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=527447[alleleid]",
        "alleleId": 527447,
        "preferredName": "NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/531879",
        "RCV": [
          "RCV000638427",
          "RCV000763856",
          "RCV004533338"
        ],
        "variationId": 531879
      }
    ]
  },
  "type": "amino-acid"
}