{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645427480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1158,
          "referenceAllele": "P",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NP_003631.2:p.Pro1158Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5174286",
          "hgvs": "NM_003640.5:c.3473C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169412"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253259[alleleid]",
        "alleleId": 253259,
        "preferredName": "NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/259113",
        "RCV": [
          "RCV000245565",
          "RCV000268649",
          "RCV000860288"
        ],
        "variationId": 259113
      }
    ]
  },
  "type": "amino-acid"
}