{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580359693",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 243,
          "referenceAllele": "P",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028979",
      "geneNCBI_id": 23199,
      "geneSymbol": "GSE1",
      "hgvs": [
        "NP_055430.1:p.Pro243Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8214273",
          "hgvs": "NM_014615.5:c.728C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173846"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2199536[alleleid]",
        "alleleId": 2199536,
        "preferredName": "NM_014615.5(GSE1):c.728C>T (p.Pro243Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2204845",
        "RCV": [
          "RCV004071088"
        ],
        "variationId": 2204845
      }
    ]
  },
  "type": "amino-acid"
}