{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828081301",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 173,
          "referenceAllele": "K",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024928",
      "geneNCBI_id": 137492,
      "geneSymbol": "VPS37A",
      "hgvs": [
        "NP_001350101.1:p.Lys173Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4643497",
          "hgvs": "NM_001363172.2:c.517A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660467"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562253[alleleid]",
        "alleleId": 562253,
        "preferredName": "NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/569194",
        "RCV": [
          "RCV000689767",
          "RCV004026337"
        ],
        "variationId": 569194
      }
    ]
  },
  "type": "amino-acid"
}