{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826578475",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3656,
          "referenceAllele": "W",
          "start": 3655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_001264984.1:p.Trp3656Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10643107",
          "hgvs": "NM_001278055.2:c.10968G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387510054",
          "hgvs": "NM_001278055.2:c.10968G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=334044[alleleid]",
        "alleleId": 334044,
        "preferredName": "NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/311506",
        "RCV": [
          "RCV000350663",
          "RCV002520863",
          "RCV004021564"
        ],
        "variationId": 311506
      }
    ]
  },
  "type": "amino-acid"
}