{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826132889",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "I",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171479.1:p.Ile278Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA113880",
          "hgvs": "NM_001178008.3:c.833T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579808229",
          "hgvs": "NM_001178008.3:c.833_834delinsCG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15159[alleleid]",
        "alleleId": 15159,
        "preferredName": "NM_000071.3(CBS):c.833T>C (p.Ile278Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/120",
        "RCV": [
          "RCV000000141",
          "RCV000000142",
          "RCV000078111",
          "RCV000173640",
          "RCV000781197",
          "RCV001252178",
          "RCV002310621",
          "RCV002276525",
          "RCV003128384"
        ],
        "variationId": 120
      }
    ]
  },
  "type": "amino-acid"
}