{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827348251",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 393,
          "referenceAllele": "V",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NP_001317687.1:p.Val393Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3173130",
          "hgvs": "NM_001330758.2:c.1177G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=808623[alleleid]",
        "alleleId": 808623,
        "preferredName": "NM_004168.4(SDHA):c.1177G>A (p.Val393Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/818500",
        "RCV": [
          "RCV001156141",
          "RCV001156142",
          "RCV001238661",
          "RCV001010145",
          "RCV001156140",
          "RCV004536047",
          "RCV003478607"
        ],
        "variationId": 818500
      }
    ]
  },
  "type": "amino-acid"
}