{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830003299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 380,
          "referenceAllele": "R",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NP_075065.3:p.Arg380Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8114434",
          "hgvs": "NM_022914.3:c.1139G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=844091[alleleid]",
        "alleleId": 844091,
        "preferredName": "NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/838233",
        "RCV": [
          "RCV001039741",
          "RCV002391112"
        ],
        "variationId": 838233
      }
    ]
  },
  "type": "amino-acid"
}