{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075843",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 2335,
          "referenceAllele": "R",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054857",
      "geneNCBI_id": 116804918,
      "geneSymbol": "TBCEL-TECTA",
      "hgvs": [
        "NP_001365690.1:p.Arg2335His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254070",
          "hgvs": "NM_001378761.1:c.7004G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736774"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22060[alleleid]",
        "alleleId": 22060,
        "preferredName": "NM_005422.4(TECTA):c.6062G>A (p.Arg2021His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7021",
        "RCV": [
          "RCV000007436",
          "RCV000595062",
          "RCV004017230"
        ],
        "variationId": 7021
      }
    ]
  },
  "type": "amino-acid"
}