{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827058720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 105,
          "referenceAllele": "S",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023287",
      "geneNCBI_id": 23474,
      "geneSymbol": "ETHE1",
      "hgvs": [
        "NP_001307798.1:p.Ser105Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9487793",
          "hgvs": "NM_001320869.2:c.314C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=92093[alleleid]",
        "alleleId": 92093,
        "preferredName": "NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2152318",
        "RCV": [
          "RCV003074995"
        ],
        "variationId": 2152318
      }
    ]
  },
  "type": "amino-acid"
}