{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827244751",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 46,
          "referenceAllele": "RE",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NP_001311122.1:p.Arg45_Glu46delinsGln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9750869",
          "hgvs": "NM_001324193.2:c.134_136del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19599[alleleid]",
        "alleleId": 19599,
        "preferredName": "NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4560",
        "RCV": [
          "RCV000004822",
          "RCV001574642"
        ],
        "variationId": 4560
      }
    ]
  },
  "type": "amino-acid"
}