{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825571198",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 294,
          "referenceAllele": "F",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NP_001107803.1:p.Phe294Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394190010",
          "hgvs": "NM_001114331.3:c.882C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394190011",
          "hgvs": "NM_001114331.3:c.882C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394190018",
          "hgvs": "NM_001114331.3:c.880T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151791"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=999976[alleleid]",
        "alleleId": 999976,
        "preferredName": "NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1012215",
        "RCV": [
          "RCV001310220"
        ],
        "variationId": 1012215
      }
    ]
  },
  "type": "amino-acid"
}