{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829837179",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 242,
          "referenceAllele": "P",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NP_056451.3:p.Pro242Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1576800",
          "hgvs": "NM_015636.4:c.725C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174690"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405710[alleleid]",
        "alleleId": 405710,
        "preferredName": "NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420062",
        "RCV": [
          "RCV000482195",
          "RCV001782965",
          "RCV003492070"
        ],
        "variationId": 420062
      }
    ]
  },
  "type": "amino-acid"
}