{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826172263",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 209,
          "referenceAllele": "I",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NP_001178250.1:p.Ile209Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042907",
          "hgvs": "NM_001191321.3:c.625A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156774"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360127[alleleid]",
        "alleleId": 360127,
        "preferredName": "NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372868",
        "RCV": [
          "RCV000413814",
          "RCV003766150"
        ],
        "variationId": 372868
      }
    ]
  },
  "type": "amino-acid"
}