{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139732320",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 4271,
          "referenceAllele": "P",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Pro4271Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6910079",
          "hgvs": "NM_014363.6:c.12812C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=870925[alleleid]",
        "alleleId": 870925,
        "preferredName": "NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/883937",
        "RCV": [
          "RCV001114728",
          "RCV003117762"
        ],
        "variationId": 883937
      }
    ]
  },
  "type": "amino-acid"
}