{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA172791",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "I",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NP_071900.2:p.Ile899Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172789",
          "hgvs": "NM_022455.5:c.2696T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177847"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168145[alleleid]",
        "alleleId": 168145,
        "preferredName": "NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159290",
        "RCV": [
          "RCV000146791",
          "RCV000557627",
          "RCV002426704",
          "RCV003231193"
        ],
        "variationId": 159290
      }
    ]
  },
  "type": "amino-acid"
}