{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826404244",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 624,
          "referenceAllele": "V",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NP_001243718.1:p.Val624Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10410781",
          "hgvs": "NM_001256789.3:c.1870G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159910"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=257849[alleleid]",
        "alleleId": 257849,
        "preferredName": "NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/259657",
        "RCV": [
          "RCV000242863",
          "RCV000726719",
          "RCV000990822"
        ],
        "variationId": 259657
      }
    ]
  },
  "type": "amino-acid"
}