{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA302346",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 292,
          "referenceAllele": "R",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NP_003156.1:p.Arg292Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA302345",
          "hgvs": "NM_003165.6:c.874C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168978"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189041[alleleid]",
        "alleleId": 189041,
        "preferredName": "NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191238",
        "RCV": [
          "RCV000171427",
          "RCV000509312",
          "RCV000502114",
          "RCV000515202",
          "RCV000700520",
          "RCV001265420",
          "RCV001266353",
          "RCV001640264",
          "RCV003488419"
        ],
        "variationId": 191238
      }
    ]
  },
  "type": "amino-acid"
}