{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499278456",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 3597,
          "referenceAllele": "Q",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Gln3597Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA387511419",
          "hgvs": "NM_014363.6:c.10790A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1048242[alleleid]",
        "alleleId": 1048242,
        "preferredName": "NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1051217",
        "RCV": [
          "RCV001359227",
          "RCV001825992",
          "RCV004034523"
        ],
        "variationId": 1051217
      }
    ]
  },
  "type": "amino-acid"
}