{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA323781",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NP_004603.1:p.Gly312Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA043448",
          "hgvs": "NM_004612.4:c.934G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170307"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210182[alleleid]",
        "alleleId": 210182,
        "preferredName": "NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213882",
        "RCV": [
          "RCV000199247",
          "RCV000208245",
          "RCV001187849",
          "RCV002255135",
          "RCV003235118"
        ],
        "variationId": 213882
      }
    ]
  },
  "type": "amino-acid"
}