{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA259796",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 262,
          "referenceAllele": "R",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NP_004238.3:p.Arg262Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259795",
          "hgvs": "NM_004247.4:c.784C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169963"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39357[alleleid]",
        "alleleId": 39357,
        "preferredName": "NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30400",
        "RCV": [
          "RCV000023353",
          "RCV001794462"
        ],
        "variationId": 30400
      }
    ]
  },
  "type": "amino-acid"
}