{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645489248",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1744,
          "referenceAllele": "S",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NP_003473.3:p.Ser1744Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6547583",
          "hgvs": "NM_003482.4:c.5231G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=317368[alleleid]",
        "alleleId": 317368,
        "preferredName": "NM_003482.4(KMT2D):c.5231G>A (p.Ser1744Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1302359",
        "RCV": [
          "RCV001754248",
          "RCV002538731"
        ],
        "variationId": 1302359
      }
    ]
  },
  "type": "amino-acid"
}