{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658808642",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 3241,
          "referenceAllele": "E",
          "start": 3240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Glu3241Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6910575",
          "hgvs": "NM_014363.6:c.9723G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387513798",
          "hgvs": "NM_014363.6:c.9723G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513167[alleleid]",
        "alleleId": 513167,
        "preferredName": "NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522554",
        "RCV": [
          "RCV000625697",
          "RCV004025286",
          "RCV002531924"
        ],
        "variationId": 522554
      }
    ]
  },
  "type": "amino-acid"
}