{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 216,
          "referenceAllele": "L",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_000275.1:p.Leu216Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121228",
          "hgvs": "NM_000284.4:c.648A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412394433",
          "hgvs": "NM_000284.4:c.648A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146830"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25932[alleleid]",
        "alleleId": 25932,
        "preferredName": "NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10893",
        "RCV": [
          "RCV000011640"
        ],
        "variationId": 10893
      }
    ]
  },
  "type": "amino-acid"
}