{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270802",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 55,
          "referenceAllele": "L",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020422",
      "geneNCBI_id": 51082,
      "geneSymbol": "POLR1D",
      "hgvs": [
        "NP_057056.1:p.Leu55Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270801",
          "hgvs": "NM_015972.4:c.163C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174864"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166231[alleleid]",
        "alleleId": 166231,
        "preferredName": "NM_015972.4(POLR1D):c.163C>G (p.Leu55Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156464",
        "RCV": [
          "RCV000144520",
          "RCV003319179"
        ],
        "variationId": 156464
      }
    ]
  },
  "type": "amino-acid"
}