{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116914",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 90,
          "referenceAllele": "S",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NP_001124174.2:p.Ser90Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116912",
          "hgvs": "NM_001130702.2:c.269C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152537"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19583[alleleid]",
        "alleleId": 19583,
        "preferredName": "NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4544",
        "RCV": [
          "RCV000004803",
          "RCV000235980",
          "RCV000547334",
          "RCV000755016",
          "RCV001270681",
          "RCV001813950",
          "RCV003311647"
        ],
        "variationId": 4544
      }
    ]
  },
  "type": "amino-acid"
}