{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827083142",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 558,
          "referenceAllele": "V",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NP_001308114.1:p.Val558Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8795656",
          "hgvs": "NM_001321185.1:c.1672G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS653290"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361396[alleleid]",
        "alleleId": 361396,
        "preferredName": "NM_001127198.5(TMC6):c.1672G>A (p.Val558Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374510",
        "RCV": [
          "RCV000415861",
          "RCV001851008"
        ],
        "variationId": 374510
      }
    ]
  },
  "type": "amino-acid"
}