{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658807120",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 312,
          "referenceAllele": "L",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027424",
      "geneNCBI_id": 282996,
      "geneSymbol": "RBM20",
      "hgvs": [
        "NP_001127835.2:p.Leu312Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA378384703",
          "hgvs": "NM_001134363.3:c.934C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152678"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=480702[alleleid]",
        "alleleId": 480702,
        "preferredName": "NM_001134363.3(RBM20):c.934C>A (p.Leu312Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/487629",
        "RCV": [
          "RCV000656209"
        ],
        "variationId": 487629
      }
    ]
  },
  "type": "amino-acid"
}