{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499289271",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 2560,
          "referenceAllele": "S",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NP_071900.2:p.Ser2560Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA362334019",
          "hgvs": "NM_022455.5:c.7678T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177847"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=990872[alleleid]",
        "alleleId": 990872,
        "preferredName": "NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1011154",
        "RCV": [
          "RCV003232296"
        ],
        "variationId": 1011154
      }
    ]
  },
  "type": "amino-acid"
}