{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139669323",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_001020018.1:p.Thr363Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA71528567",
          "hgvs": "NM_001024847.2:c.1088C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149275"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=973359[alleleid]",
        "alleleId": 973359,
        "preferredName": "NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/986190",
        "RCV": [
          "RCV001532479",
          "RCV001880147",
          "RCV004004934"
        ],
        "variationId": 986190
      }
    ]
  },
  "type": "amino-acid"
}