{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741921077",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1282,
          "referenceAllele": "S",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NP_005325.2:p.Ser1282Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10557127",
          "hgvs": "NM_005334.3:c.3845C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170976"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2738486[alleleid]",
        "alleleId": 2738486,
        "preferredName": "NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2573542",
        "RCV": [
          "RCV003317878",
          "RCV003638937"
        ],
        "variationId": 2573542
      }
    ]
  },
  "type": "amino-acid"
}