{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916024431",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 353,
          "referenceAllele": "T",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001307227.1:p.Thr353Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA113902",
          "hgvs": "NM_001320298.2:c.1058C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15170[alleleid]",
        "alleleId": 15170,
        "preferredName": "NM_000071.3(CBS):c.1058C>T (p.Thr353Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/131",
        "RCV": [
          "RCV000000154",
          "RCV000078106",
          "RCV000169466",
          "RCV002227961",
          "RCV002271361",
          "RCV004018522"
        ],
        "variationId": 131
      }
    ]
  },
  "type": "amino-acid"
}