{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA347296",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 34,
          "referenceAllele": "P",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NP_001288268.1:p.Pro34Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347295",
          "hgvs": "NM_001301339.2:c.100C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165657"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200689[alleleid]",
        "alleleId": 200689,
        "preferredName": "NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204291",
        "RCV": [
          "RCV000192231",
          "RCV000533214",
          "RCV001579805",
          "RCV000990379",
          "RCV002433830",
          "RCV003955119",
          "RCV003993872"
        ],
        "variationId": 204291
      }
    ]
  },
  "type": "amino-acid"
}