{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916014213",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3402,
          "referenceAllele": "D",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Asp3402Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6910487",
          "hgvs": "NM_014363.6:c.10205A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=641595[alleleid]",
        "alleleId": 641595,
        "preferredName": "NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648020",
        "RCV": [
          "RCV000802657",
          "RCV001274921",
          "RCV001662833"
        ],
        "variationId": 648020
      }
    ]
  },
  "type": "amino-acid"
}