{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826610795",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 147,
          "referenceAllele": "R",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NP_001265560.1:p.Arg147Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16607760",
          "hgvs": "NM_001278631.2:c.440G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161890"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376349[alleleid]",
        "alleleId": 376349,
        "preferredName": "NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/393256",
        "RCV": [
          "RCV000431904",
          "RCV000699220",
          "RCV001260891"
        ],
        "variationId": 393256
      }
    ]
  },
  "type": "amino-acid"
}