{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826133267",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 49,
          "referenceAllele": "P",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171480.1:p.Pro49Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325105",
          "hgvs": "NM_001178009.3:c.146C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579804888",
          "hgvs": "NM_001178009.3:c.145_146delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210450[alleleid]",
        "alleleId": 210450,
        "preferredName": "NM_000071.3(CBS):c.146C>T (p.Pro49Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212872",
        "RCV": [
          "RCV000200523",
          "RCV000410155",
          "RCV002310761",
          "RCV002229028"
        ],
        "variationId": 212872
      }
    ]
  },
  "type": "amino-acid"
}