{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139713253",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 334,
          "referenceAllele": "R",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NP_006493.1:p.Arg334Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3827137",
          "hgvs": "NM_006502.3:c.1000C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172047"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=896388[alleleid]",
        "alleleId": 896388,
        "preferredName": "NM_006502.3(POLH):c.1000C>T (p.Arg334Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/909633",
        "RCV": [
          "RCV001160808",
          "RCV002558524"
        ],
        "variationId": 909633
      }
    ]
  },
  "type": "amino-acid"
}