{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830047533",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 196,
          "referenceAllele": "E",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NP_079236.3:p.Glu196Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408119323",
          "hgvs": "NM_024960.6:c.586G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178668"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2743555[alleleid]",
        "alleleId": 2743555,
        "preferredName": "NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2578555",
        "RCV": [
          "RCV003326731"
        ],
        "variationId": 2578555
      }
    ]
  },
  "type": "amino-acid"
}