{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826132661",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171479.1:p.Ala114Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA113878",
          "hgvs": "NM_001178008.3:c.341C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579813313",
          "hgvs": "NM_001178008.3:c.341_342delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15158[alleleid]",
        "alleleId": 15158,
        "preferredName": "NM_000071.3(CBS):c.341C>T (p.Ala114Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/119",
        "RCV": [
          "RCV000000140",
          "RCV000200823",
          "RCV000590659",
          "RCV000490533",
          "RCV002227956",
          "RCV002453244",
          "RCV003952330"
        ],
        "variationId": 119
      }
    ]
  },
  "type": "amino-acid"
}