{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA214716",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 819,
          "referenceAllele": "V",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019165",
      "geneNCBI_id": 9882,
      "geneSymbol": "TBC1D4",
      "hgvs": [
        "NP_055647.2:p.Val819Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214715",
          "hgvs": "NM_014832.5:c.2455G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174044"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135995[alleleid]",
        "alleleId": 135995,
        "preferredName": "NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/130549",
        "RCV": [
          "RCV000118589",
          "RCV001711206"
        ],
        "variationId": 130549
      }
    ]
  },
  "type": "amino-acid"
}