{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826481695",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 136,
          "referenceAllele": "Q",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NP_001248347.1:p.Gln136Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA824034",
          "hgvs": "NM_001261418.2:c.407A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160423"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1487893[alleleid]",
        "alleleId": 1487893,
        "preferredName": "NM_020365.5(EIF2B3):c.407A>C (p.Gln136Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1443894",
        "RCV": [
          "RCV001955769",
          "RCV003331243"
        ],
        "variationId": 1443894
      }
    ]
  },
  "type": "amino-acid"
}