{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA323485",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 45,
          "referenceAllele": "R",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Arg45Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA323483",
          "hgvs": "NM_000071.3:c.133C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210451[alleleid]",
        "alleleId": 210451,
        "preferredName": "NM_000071.3(CBS):c.133C>T (p.Arg45Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212871",
        "RCV": [
          "RCV000198945",
          "RCV001081627",
          "RCV002229027",
          "RCV002381662"
        ],
        "variationId": 212871
      }
    ]
  },
  "type": "amino-acid"
}