{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253512",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 3927,
          "referenceAllele": "A",
          "start": 3926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_001264984.1:p.Ala3927Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253511",
          "hgvs": "NM_001278055.2:c.11779G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20553[alleleid]",
        "alleleId": 20553,
        "preferredName": "NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5514",
        "RCV": [
          "RCV000005849"
        ],
        "variationId": 5514
      }
    ]
  },
  "type": "amino-acid"
}