{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580279373",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 562,
          "referenceAllele": "L",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008554",
      "geneNCBI_id": 26986,
      "geneSymbol": "PABPC1",
      "hgvs": [
        "NP_002559.2:p.Leu562Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4829180",
          "hgvs": "NM_002568.4:c.1685T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168415"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1689247[alleleid]",
        "alleleId": 1689247,
        "preferredName": "NM_002568.4(PABPC1):c.1685T>C (p.Leu562Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1696850",
        "RCV": [
          "RCV002512182"
        ],
        "variationId": 1696850
      }
    ]
  },
  "type": "amino-acid"
}