{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093764",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 316,
          "referenceAllele": "V",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "NP_055054.1:p.Val316Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340227",
          "hgvs": "NM_014239.4:c.947T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173545"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19376[alleleid]",
        "alleleId": 19376,
        "preferredName": "NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4337",
        "RCV": [
          "RCV000004585",
          "RCV000995207",
          "RCV003221400"
        ],
        "variationId": 4337
      }
    ]
  },
  "type": "amino-acid"
}