{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826133500",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "A",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171480.1:p.Ala226Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042003",
          "hgvs": "NM_001178009.3:c.676G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358641[alleleid]",
        "alleleId": 358641,
        "preferredName": "NM_000071.3(CBS):c.676G>A (p.Ala226Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370382",
        "RCV": [
          "RCV000412334",
          "RCV001527049",
          "RCV002230214",
          "RCV003168587"
        ],
        "variationId": 370382
      }
    ]
  },
  "type": "amino-acid"
}