{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915982418",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 84,
          "referenceAllele": "R",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NP_001138576.1:p.Arg84Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020124",
          "hgvs": "NM_001145104.2:c.251G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153936"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39266[alleleid]",
        "alleleId": 39266,
        "preferredName": "NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30310",
        "RCV": [
          "RCV000023245"
        ],
        "variationId": 30310
      }
    ]
  },
  "type": "amino-acid"
}