{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826179275",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 291,
          "referenceAllele": "L",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NP_001180270.1:p.Leu291Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3828430",
          "hgvs": "NM_001193341.2:c.871C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=307640[alleleid]",
        "alleleId": 307640,
        "preferredName": "NM_152732.5(RSPH9):c.819C>T (p.Pro273=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/357020",
        "RCV": [
          "RCV000265038",
          "RCV001095134"
        ],
        "variationId": 357020
      }
    ]
  },
  "type": "amino-acid"
}