{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741851160",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 435,
          "referenceAllele": "S",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NP_001278.1:p.Ser435Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394189131",
          "hgvs": "NM_001287.6:c.1304C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2831961[alleleid]",
        "alleleId": 2831961,
        "preferredName": "NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2664511",
        "RCV": [
          "RCV003447463"
        ],
        "variationId": 2664511
      }
    ]
  },
  "type": "amino-acid"
}