{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827460947",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 276,
          "referenceAllele": "R",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009775",
      "geneNCBI_id": 9609,
      "geneSymbol": "RAB36",
      "hgvs": [
        "NP_001336807.1:p.Arg276His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10141522",
          "hgvs": "NM_001349878.1:c.827G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636010"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2203386[alleleid]",
        "alleleId": 2203386,
        "preferredName": "NM_004914.5(RAB36):c.649G>A (p.Val217Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2206105",
        "RCV": [
          "RCV004072615"
        ],
        "variationId": 2206105
      }
    ]
  },
  "type": "amino-acid"
}