{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645494805",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 125,
          "referenceAllele": "R",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007710",
      "geneNCBI_id": 4722,
      "geneSymbol": "NDUFS3",
      "hgvs": [
        "NP_004542.1:p.Arg125His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5977938",
          "hgvs": "NM_004551.3:c.374G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408382[alleleid]",
        "alleleId": 408382,
        "preferredName": "NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418381",
        "RCV": [
          "RCV000479127",
          "RCV000853270",
          "RCV001823140"
        ],
        "variationId": 418381
      }
    ]
  },
  "type": "amino-acid"
}