{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139703891",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 394,
          "referenceAllele": "R",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NP_001683.2:p.Arg394Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347187661",
          "hgvs": "NM_001692.4:c.1181G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167584"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=826925[alleleid]",
        "alleleId": 826925,
        "preferredName": "NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/852567",
        "RCV": [
          "RCV001057202",
          "RCV001328241"
        ],
        "variationId": 852567
      }
    ]
  },
  "type": "amino-acid"
}