{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827348058",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NP_001317687.1:p.Ala331Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3173058",
          "hgvs": "NM_001330758.2:c.991G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247314[alleleid]",
        "alleleId": 247314,
        "preferredName": "NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/252912",
        "RCV": [
          "RCV000239369",
          "RCV000567963",
          "RCV000765830",
          "RCV002291613"
        ],
        "variationId": 252912
      }
    ]
  },
  "type": "amino-acid"
}