{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA324405",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "R",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NP_005893.1:p.Arg373Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA324404",
          "hgvs": "NM_005902.4:c.1117C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171493"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210295[alleleid]",
        "alleleId": 210295,
        "preferredName": "NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213774",
        "RCV": [
          "RCV000199856",
          "RCV000553894",
          "RCV001374826",
          "RCV003640877"
        ],
        "variationId": 213774
      }
    ]
  },
  "type": "amino-acid"
}