{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827347840",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 247,
          "referenceAllele": "I",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NP_001317687.1:p.Ile247Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3172957",
          "hgvs": "NM_001330758.2:c.739A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233454[alleleid]",
        "alleleId": 233454,
        "preferredName": "NM_004168.4(SDHA):c.739A>G (p.Ile247Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232828",
        "RCV": [
          "RCV000214276",
          "RCV000230633",
          "RCV000765826",
          "RCV000663181",
          "RCV003477750"
        ],
        "variationId": 232828
      }
    ]
  },
  "type": "amino-acid"
}