{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096434",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Gly307Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA113874",
          "hgvs": "NM_000071.3:c.919G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579809371",
          "hgvs": "NM_000071.3:c.919_921delinsAGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15156[alleleid]",
        "alleleId": 15156,
        "preferredName": "NM_000071.3(CBS):c.919G>A (p.Gly307Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/117",
        "RCV": [
          "RCV000000137",
          "RCV000000138",
          "RCV000078112",
          "RCV000173641",
          "RCV000366433",
          "RCV002313701",
          "RCV003914786"
        ],
        "variationId": 117
      }
    ]
  },
  "type": "amino-acid"
}