{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096125",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "referenceAllele": "R",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Arg369Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA324371",
          "hgvs": "NM_000071.3:c.1105C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812103",
          "hgvs": "NM_000071.3:c.1105_1107delinsTGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210412[alleleid]",
        "alleleId": 210412,
        "preferredName": "NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212860",
        "RCV": [
          "RCV000231839",
          "RCV000514877",
          "RCV001526851",
          "RCV002310759",
          "RCV002517167",
          "RCV002277461",
          "RCV003401060"
        ],
        "variationId": 212860
      }
    ]
  },
  "type": "amino-acid"
}