{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826132646",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 101,
          "referenceAllele": "L",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171479.1:p.Leu101Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274473",
          "hgvs": "NM_001178008.3:c.302T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579813640",
          "hgvs": "NM_001178008.3:c.302_303delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187062[alleleid]",
        "alleleId": 187062,
        "preferredName": "NM_000071.3(CBS):c.302T>C (p.Leu101Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189185",
        "RCV": [
          "RCV000169617",
          "RCV001251397",
          "RCV002228615"
        ],
        "variationId": 189185
      }
    ]
  },
  "type": "amino-acid"
}