{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097803",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 418,
          "referenceAllele": "R",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NP_004817.2:p.Arg418Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130332",
          "hgvs": "NM_004826.4:c.1252C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645372712",
          "hgvs": "NM_004826.4:c.[1252C>A;1184+3A>T]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170510"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48089[alleleid]",
        "alleleId": 48089,
        "preferredName": "NM_004826.4(ECEL1):c.1252C>A (p.Arg418Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39490",
        "RCV": [
          "RCV000032686"
        ],
        "variationId": 39490
      }
    ]
  },
  "type": "amino-acid"
}