{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139694541",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 827,
          "referenceAllele": "V",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NP_001171536.2:p.Val827Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354159828",
          "hgvs": "NM_001178065.2:c.2479G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710625"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=931712[alleleid]",
        "alleleId": 931712,
        "preferredName": "NM_000388.4(CASR):c.2449G>C (p.Val817Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934259",
        "RCV": [
          "RCV001202613"
        ],
        "variationId": 934259
      }
    ]
  },
  "type": "amino-acid"
}