{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826132966",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 336,
          "referenceAllele": "R",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171479.1:p.Arg336Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410599800",
          "hgvs": "NM_001178008.3:c.1006C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812114",
          "hgvs": "NM_001178008.3:c.1006_1008delinsTCT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812115",
          "hgvs": "NM_001178008.3:c.1006_1008delinsAGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2907050[alleleid]",
        "alleleId": 2907050,
        "preferredName": "NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2743697",
        "RCV": [
          "RCV003494982"
        ],
        "variationId": 2743697
      }
    ]
  },
  "type": "amino-acid"
}