{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826577499",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2281,
          "referenceAllele": "I",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_001264984.1:p.Ile2281Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246657061",
          "hgvs": "NM_001278055.2:c.6841A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577312[alleleid]",
        "alleleId": 577312,
        "preferredName": "NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586443",
        "RCV": [
          "RCV000712989",
          "RCV001784353",
          "RCV002534516"
        ],
        "variationId": 586443
      }
    ]
  },
  "type": "amino-acid"
}