{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA223654",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 784,
          "referenceAllele": "Q",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NP_071900.2:p.Gln784Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA223652",
          "hgvs": "NM_022455.5:c.2350C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177847"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101939[alleleid]",
        "alleleId": 101939,
        "preferredName": "NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96045",
        "RCV": [
          "RCV000082110",
          "RCV002444551",
          "RCV003231126"
        ],
        "variationId": 96045
      }
    ]
  },
  "type": "amino-acid"
}