{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826576975",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1569,
          "referenceAllele": "K",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_001264984.1:p.Lys1569Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6911294",
          "hgvs": "NM_001278055.2:c.4706A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=926819[alleleid]",
        "alleleId": 926819,
        "preferredName": "NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/952794",
        "RCV": [
          "RCV001224971",
          "RCV001836173"
        ],
        "variationId": 952794
      }
    ]
  },
  "type": "amino-acid"
}