{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825805640",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 173,
          "referenceAllele": "H",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NP_001136077.1:p.His173Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261241",
          "hgvs": "NM_001142605.2:c.518A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153470"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48561[alleleid]",
        "alleleId": 48561,
        "preferredName": "NM_004247.4(EFTUD2):c.623A>G (p.His208Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40047",
        "RCV": [
          "RCV000033145"
        ],
        "variationId": 40047
      }
    ]
  },
  "type": "amino-acid"
}