{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825845532",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 54,
          "referenceAllele": "F",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026114",
      "geneNCBI_id": 80153,
      "geneSymbol": "EDC3",
      "hgvs": [
        "NP_001135915.1:p.Phe54Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042246",
          "hgvs": "NM_001142443.3:c.161T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153364"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359123[alleleid]",
        "alleleId": 359123,
        "preferredName": "NM_025083.5(EDC3):c.161T>C (p.Phe54Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372218",
        "RCV": [
          "RCV000412560"
        ],
        "variationId": 372218
      }
    ]
  },
  "type": "amino-acid"
}