{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826133799",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 466,
          "referenceAllele": "S",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_001171480.1:p.Ser466Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA113900",
          "hgvs": "NM_001178009.3:c.1397C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579805385",
          "hgvs": "NM_001178009.3:c.1397_1398delinsTA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2579805386",
          "hgvs": "NM_001178009.3:c.1396_1397delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15169[alleleid]",
        "alleleId": 15169,
        "preferredName": "NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/130",
        "RCV": [
          "RCV000000153",
          "RCV000675119",
          "RCV002390082",
          "RCV003226154"
        ],
        "variationId": 130
      }
    ]
  },
  "type": "amino-acid"
}