{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826578017",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 3041,
          "referenceAllele": "F",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_001264984.1:p.Phe3041Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6910604",
          "hgvs": "NM_001278055.2:c.9121T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387514161",
          "hgvs": "NM_001278055.2:c.9123T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387514162",
          "hgvs": "NM_001278055.2:c.9123T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577309[alleleid]",
        "alleleId": 577309,
        "preferredName": "NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586446",
        "RCV": [
          "RCV000712994",
          "RCV000765118",
          "RCV001034278"
        ],
        "variationId": 586446
      }
    ]
  },
  "type": "amino-acid"
}