{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827070502",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 231,
          "referenceAllele": "R",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001308001.1:p.Arg231His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16041997",
          "hgvs": "NM_001321072.1:c.692G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812121",
          "hgvs": "NM_001321072.1:c.692_693delinsAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358635[alleleid]",
        "alleleId": 358635,
        "preferredName": "NM_000071.3(CBS):c.1007G>A (p.Arg336His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371147",
        "RCV": [
          "RCV000409189",
          "RCV001584104",
          "RCV002230729"
        ],
        "variationId": 371147
      }
    ]
  },
  "type": "amino-acid"
}