{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA239315",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 881,
          "referenceAllele": "E",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Glu881Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239314",
          "hgvs": "NM_014363.6:c.2643G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387538450",
          "hgvs": "NM_014363.6:c.2643G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190872[alleleid]",
        "alleleId": 190872,
        "preferredName": "NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193709",
        "RCV": [
          "RCV000173860",
          "RCV000400126",
          "RCV001085181"
        ],
        "variationId": 193709
      }
    ]
  },
  "type": "amino-acid"
}