{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645470263",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 246,
          "referenceAllele": "F",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004081",
      "geneNCBI_id": 2560,
      "geneSymbol": "GABRB1",
      "hgvs": [
        "NP_000803.2:p.Phe246Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10588846",
          "hgvs": "NM_000812.4:c.737T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147317"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260579[alleleid]",
        "alleleId": 260579,
        "preferredName": "NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265863",
        "RCV": [
          "RCV000256298"
        ],
        "variationId": 265863
      }
    ]
  },
  "type": "amino-acid"
}