{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827070535",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001308001.1:p.Gly242Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA273978",
          "hgvs": "NM_001321072.1:c.724G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187055[alleleid]",
        "alleleId": 187055,
        "preferredName": "NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188801",
        "RCV": [
          "RCV000169132",
          "RCV000197584",
          "RCV000780082",
          "RCV002390401",
          "RCV002228607"
        ],
        "variationId": 188801
      }
    ]
  },
  "type": "amino-acid"
}