{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891849505",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 253,
          "referenceAllele": "P",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NP_068712.1:p.Pro253His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391463228",
          "hgvs": "NM_021912.4:c.758C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177595"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=566893[alleleid]",
        "alleleId": 566893,
        "preferredName": "NM_000814.6(GABRB3):c.758C>A (p.Pro253His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/582321",
        "RCV": [
          "RCV000706365"
        ],
        "variationId": 582321
      }
    ]
  },
  "type": "amino-acid"
}