{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580364858",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 238,
          "referenceAllele": "L",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NP_039663.1:p.Leu238Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404318710",
          "hgvs": "NM_013976.3:c.713T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173380"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868400[alleleid]",
        "alleleId": 1868400,
        "preferredName": "NM_000159.4(GCDH):c.713T>C (p.Leu238Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138247",
        "RCV": [
          "RCV003064559"
        ],
        "variationId": 2138247
      }
    ]
  },
  "type": "amino-acid"
}