{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829426401",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 460,
          "referenceAllele": "R",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_003233.4:p.Arg460Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351809136",
          "hgvs": "NM_003242.6:c.1378C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169040"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1323488[alleleid]",
        "alleleId": 1323488,
        "preferredName": "NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1332770",
        "RCV": [
          "RCV001806344"
        ],
        "variationId": 1332770
      }
    ]
  },
  "type": "amino-acid"
}