{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826133353",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 121,
          "referenceAllele": "R",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171480.1:p.Arg121His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274172",
          "hgvs": "NM_001178009.3:c.362G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812221",
          "hgvs": "NM_001178009.3:c.362_363delinsAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187059[alleleid]",
        "alleleId": 187059,
        "preferredName": "NM_000071.3(CBS):c.362G>A (p.Arg121His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188948",
        "RCV": [
          "RCV000169322",
          "RCV001192720",
          "RCV002228611",
          "RCV002453568"
        ],
        "variationId": 188948
      }
    ]
  },
  "type": "amino-acid"
}