{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741846136",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 146,
          "referenceAllele": "K",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009785",
      "geneNCBI_id": 5878,
      "geneSymbol": "RAB5C",
      "hgvs": [
        "NP_001238968.1:p.Lys146Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA399558481",
          "hgvs": "NM_001252039.2:c.436A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159301"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2782435[alleleid]",
        "alleleId": 2782435,
        "preferredName": "NM_004583.4(RAB5C):c.337A>C (p.Lys113Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2618690",
        "RCV": [
          "RCV003380985"
        ],
        "variationId": 2618690
      }
    ]
  },
  "type": "amino-acid"
}