{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827836858",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "E",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001341210.1:p.Glu634Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127763",
          "hgvs": "NM_001354281.2:c.1901A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625437"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33095[alleleid]",
        "alleleId": 33095,
        "preferredName": "NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18056",
        "RCV": [
          "RCV000170702",
          "RCV000171737",
          "RCV000244762",
          "RCV000845369",
          "RCV001002092",
          "RCV000019672",
          "RCV000019673",
          "RCV000058356"
        ],
        "variationId": 18056
      }
    ]
  },
  "type": "amino-acid"
}