{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915989203",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 2295,
          "referenceAllele": "S",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NP_003473.3:p.Ser2295Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6547163",
          "hgvs": "NM_003482.4:c.6884C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=793431[alleleid]",
        "alleleId": 793431,
        "preferredName": "NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/805015",
        "RCV": [
          "RCV000992315",
          "RCV002275178",
          "RCV002549793"
        ],
        "variationId": 805015
      }
    ]
  },
  "type": "amino-acid"
}