{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825880906",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 182,
          "referenceAllele": "R",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NP_001138574.1:p.Arg182Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020135",
          "hgvs": "NM_001145102.2:c.545G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178706[alleleid]",
        "alleleId": 178706,
        "preferredName": "NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180524",
        "RCV": [
          "RCV000157501",
          "RCV000197902",
          "RCV000660271",
          "RCV001198563",
          "RCV001798527"
        ],
        "variationId": 180524
      }
    ]
  },
  "type": "amino-acid"
}