{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826468737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 627,
          "referenceAllele": "L",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NP_001245283.1:p.Leu627Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259799",
          "hgvs": "NM_001258354.2:c.1880T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160285"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39361[alleleid]",
        "alleleId": 39361,
        "preferredName": "NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30404",
        "RCV": [
          "RCV000023357"
        ],
        "variationId": 30404
      }
    ]
  },
  "type": "amino-acid"
}