{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827276517",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 263,
          "referenceAllele": "D",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NP_001316867.1:p.Asp263His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203908",
          "hgvs": "NM_001329938.2:c.787G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622809"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=199892[alleleid]",
        "alleleId": 199892,
        "preferredName": "NM_003239.5(TGFB3):c.787G>C (p.Asp263His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203492",
        "RCV": [
          "RCV000185632",
          "RCV000498355"
        ],
        "variationId": 203492
      }
    ]
  },
  "type": "amino-acid"
}