{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830468583",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "IS",
          "start": 641
        },
        {
          "allele": "",
          "end": 660,
          "referenceAllele": "KRNEAGEWNRDVYIRQ",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NP_963890.2:p.[Ile642_Ser643del;Lys645Ter]"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2580081383",
          "hgvs": "NM_201596.3:c.1920_1924dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185592"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1839066[alleleid]",
        "alleleId": 1839066,
        "preferredName": "NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642delinsLysTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1779499",
        "RCV": [
          "RCV003509754",
          "RCV002401621"
        ],
        "variationId": 1779499
      }
    ]
  },
  "type": "amino-acid"
}