{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827070183",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119,
          "referenceAllele": "R",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001308001.1:p.Arg119Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA322963",
          "hgvs": "NM_001321072.1:c.355C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579812679",
          "hgvs": "NM_001321072.1:c.355_357delinsTGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210431[alleleid]",
        "alleleId": 210431,
        "preferredName": "NM_000071.3(CBS):c.670C>T (p.Arg224Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212851",
        "RCV": [
          "RCV000556147",
          "RCV000726462",
          "RCV003330558",
          "RCV002517164",
          "RCV002310758"
        ],
        "variationId": 212851
      }
    ]
  },
  "type": "amino-acid"
}