{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA173638",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 245,
          "referenceAllele": "H",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NP_001027392.1:p.His245Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA173637",
          "hgvs": "NM_001032221.6:c.734A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149527"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168753[alleleid]",
        "alleleId": 168753,
        "preferredName": "NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160070",
        "RCV": [
          "RCV000147705",
          "RCV000636306",
          "RCV001265418"
        ],
        "variationId": 160070
      }
    ]
  },
  "type": "amino-acid"
}