{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826578519",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 3728,
          "referenceAllele": "R",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_001264984.1:p.Arg3728His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351289",
          "hgvs": "NM_001278055.2:c.11183G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213625[alleleid]",
        "alleleId": 213625,
        "preferredName": "NM_014363.6(SACS):c.11624G>A (p.Arg3875His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242492",
        "RCV": [
          "RCV001843500",
          "RCV001848018",
          "RCV002305471"
        ],
        "variationId": 242492
      }
    ]
  },
  "type": "amino-acid"
}