{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825805997",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 743,
          "referenceAllele": "P",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NP_001136077.1:p.Pro743His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620453",
          "hgvs": "NM_001142605.2:c.2228C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153470"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410042[alleleid]",
        "alleleId": 410042,
        "preferredName": "NM_004247.4(EFTUD2):c.2333C>A (p.Pro778His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423361",
        "RCV": [
          "RCV000480810"
        ],
        "variationId": 423361
      }
    ]
  },
  "type": "amino-acid"
}