{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104171",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 70,
          "referenceAllele": "R",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NP_061764.2:p.Arg70His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA264159",
          "hgvs": "NM_018941.4:c.209G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176482"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71343[alleleid]",
        "alleleId": 71343,
        "preferredName": "NM_018941.4(CLN8):c.209G>A (p.Arg70His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56704",
        "RCV": [
          "RCV000050117",
          "RCV000464589",
          "RCV000623329"
        ],
        "variationId": 56704
      }
    ]
  },
  "type": "amino-acid"
}