{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916050581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 295,
          "referenceAllele": "R",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "NP_689681.2:p.Arg295His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8796651",
          "hgvs": "NM_152468.5:c.884G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=646818[alleleid]",
        "alleleId": 646818,
        "preferredName": "NM_152468.5(TMC8):c.884G>A (p.Arg295His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648780",
        "RCV": [
          "RCV000803583",
          "RCV003166231"
        ],
        "variationId": 648780
      }
    ]
  },
  "type": "amino-acid"
}