{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891856201",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4369,
          "referenceAllele": "D",
          "start": 4368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Asp4369Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6910022",
          "hgvs": "NM_014363.6:c.13106A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=568278[alleleid]",
        "alleleId": 568278,
        "preferredName": "NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/568055",
        "RCV": [
          "RCV000688293",
          "RCV001830494",
          "RCV002272330"
        ],
        "variationId": 568055
      }
    ]
  },
  "type": "amino-acid"
}