{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499276038",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NP_009198.4:p.Ala445Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8795785",
          "hgvs": "NM_007267.7:c.1333G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172723"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=997970[alleleid]",
        "alleleId": 997970,
        "preferredName": "NM_001127198.5(TMC6):c.1333G>A (p.Ala445Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1008947",
        "RCV": [
          "RCV001306364"
        ],
        "variationId": 1008947
      }
    ]
  },
  "type": "amino-acid"
}