{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826132628",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171479.1:p.Gly85Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA319849",
          "hgvs": "NM_001178008.3:c.253G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410602117",
          "hgvs": "NM_001178008.3:c.253G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579808902",
          "hgvs": "NM_001178008.3:c.253_255delinsAGA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210446[alleleid]",
        "alleleId": 210446,
        "preferredName": "NM_000071.3(CBS):c.253G>A (p.Gly85Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212874",
        "RCV": [
          "RCV000195506",
          "RCV001063052",
          "RCV002228834"
        ],
        "variationId": 212874
      }
    ]
  },
  "type": "amino-acid"
}