{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2742006795",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 306,
          "referenceAllele": "V",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018536",
      "geneNCBI_id": 113510,
      "geneSymbol": "HELQ",
      "hgvs": [
        "NP_598375.3:p.Val306Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2989900",
          "hgvs": "NM_133636.5:c.916G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738963"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3197404[alleleid]",
        "alleleId": 3197404,
        "preferredName": "NM_133636.5(HELQ):c.916G>A (p.Val306Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3060988",
        "RCV": [
          "RCV003982500"
        ],
        "variationId": 3060988
      }
    ]
  },
  "type": "amino-acid"
}