{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645500914",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 310,
          "referenceAllele": "E",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_005046.2:p.Glu310Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5976558",
          "hgvs": "NM_005055.5:c.928G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170721"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=328006[alleleid]",
        "alleleId": 328006,
        "preferredName": "NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304972",
        "RCV": [
          "RCV000358965",
          "RCV000396758",
          "RCV001223828",
          "RCV001833442",
          "RCV003129828"
        ],
        "variationId": 304972
      }
    ]
  },
  "type": "amino-acid"
}