{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA339744",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 468,
          "referenceAllele": "R",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NP_003218.2:p.Arg468His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339743",
          "hgvs": "NM_003227.4:c.1403G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169032"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34217[alleleid]",
        "alleleId": 34217,
        "preferredName": "NM_003227.4(TFR2):c.1403G>A (p.Arg468His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21365",
        "RCV": [
          "RCV000020538",
          "RCV000205036",
          "RCV000260840"
        ],
        "variationId": 21365
      }
    ]
  },
  "type": "amino-acid"
}