{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096044",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 125,
          "referenceAllele": "R",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Arg125Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275291",
          "hgvs": "NM_000071.3:c.374G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194786[alleleid]",
        "alleleId": 194786,
        "preferredName": "NM_000071.3(CBS):c.374G>A (p.Arg125Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197625",
        "RCV": [
          "RCV000178709",
          "RCV000723426",
          "RCV001804908",
          "RCV002228790"
        ],
        "variationId": 197625
      }
    ]
  },
  "type": "amino-acid"
}