{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3063912240",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 341,
          "referenceAllele": "H",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003259",
      "geneNCBI_id": 8891,
      "geneSymbol": "EIF2B3",
      "hgvs": [
        "NP_065098.1:p.His341Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA21786529",
          "hgvs": "NM_020365.5:c.1023T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA340117346",
          "hgvs": "NM_020365.5:c.1023T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176872"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4799850[alleleid]",
        "alleleId": 4799850,
        "preferredName": "NM_020365.5(EIF2B3):c.1023T>G (p.His341Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4688390",
        "RCV": [
          "RCV006457785"
        ],
        "variationId": 4688390
      }
    ]
  },
  "type": "amino-acid"
}