{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580478352",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "referenceAllele": "R",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018572",
      "geneNCBI_id": 84263,
      "geneSymbol": "HSDL2",
      "hgvs": [
        "NP_115679.2:p.Arg306Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5191104",
          "hgvs": "NM_032303.5:c.916C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179497"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2427782[alleleid]",
        "alleleId": 2427782,
        "preferredName": "NM_032303.5(HSDL2):c.916C>T (p.Arg306Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2457027",
        "RCV": [
          "RCV004252561"
        ],
        "variationId": 2457027
      }
    ]
  },
  "type": "amino-acid"
}