{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826133193",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 539,
          "referenceAllele": "L",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171479.1:p.Leu539Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA113889",
          "hgvs": "NM_001178008.3:c.1616T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579806942",
          "hgvs": "NM_001178008.3:c.1616_1617delinsCT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579806943",
          "hgvs": "NM_001178008.3:c.1615_1617delinsAGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15163[alleleid]",
        "alleleId": 15163,
        "preferredName": "NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/124",
        "RCV": [
          "RCV000000146",
          "RCV000675072",
          "RCV002468955",
          "RCV003597960"
        ],
        "variationId": 124
      }
    ]
  },
  "type": "amino-acid"
}