{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829104543",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2741,
          "referenceAllele": "N",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001373104.1:p.Asn2741Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3051712",
          "hgvs": "NM_001386175.1:c.8222A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735871"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=889993[alleleid]",
        "alleleId": 889993,
        "preferredName": "NM_001148.6(ANK2):c.8105A>G (p.Asn2702Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/900437",
        "RCV": [
          "RCV001145631",
          "RCV002557116",
          "RCV004032740"
        ],
        "variationId": 900437
      }
    ]
  },
  "type": "amino-acid"
}