{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916018184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 388,
          "referenceAllele": "S",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NP_001278796.1:p.Ser388Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA207668",
          "hgvs": "NM_001291867.2:c.1163C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164817"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=208985[alleleid]",
        "alleleId": 208985,
        "preferredName": "NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211595",
        "RCV": [
          "RCV000193889",
          "RCV003621519"
        ],
        "variationId": 211595
      }
    ]
  },
  "type": "amino-acid"
}