{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829097884",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1788,
          "referenceAllele": "V",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001373090.1:p.Val1788Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199816",
          "hgvs": "NM_001386161.1:c.5362G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357943476",
          "hgvs": "NM_001386161.1:c.5362G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735765"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189253[alleleid]",
        "alleleId": 189253,
        "preferredName": "NM_001148.6(ANK2):c.11683G>C (p.Val3895Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191416",
        "RCV": [
          "RCV001842514"
        ],
        "variationId": 191416
      }
    ]
  },
  "type": "amino-acid"
}