{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828084267",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "referenceAllele": "T",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021785",
      "geneNCBI_id": 84060,
      "geneSymbol": "RBM48",
      "hgvs": [
        "NP_001350296.1:p.Thr104Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4341946",
          "hgvs": "NM_001363367.1:c.310A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS656981"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=539138[alleleid]",
        "alleleId": 539138,
        "preferredName": "NM_032120.4(RBM48):c.835A>G (p.Thr279Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/548642",
        "RCV": [
          "RCV000662274"
        ],
        "variationId": 548642
      }
    ]
  },
  "type": "amino-acid"
}