{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826953252",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 326,
          "referenceAllele": "P",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008808",
      "geneNCBI_id": 5162,
      "geneSymbol": "PDHB",
      "hgvs": [
        "NP_001302465.1:p.Pro326Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122949",
          "hgvs": "NM_001315536.2:c.976C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167029"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28228[alleleid]",
        "alleleId": 28228,
        "preferredName": "NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13189",
        "RCV": [
          "RCV000014077"
        ],
        "variationId": 13189
      }
    ]
  },
  "type": "amino-acid"
}