{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830469833",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 614,
          "referenceAllele": "D",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NP_963891.1:p.Asp614Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA376072809",
          "hgvs": "NM_201597.3:c.1840G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185593"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017278[alleleid]",
        "alleleId": 1017278,
        "preferredName": "NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030474",
        "RCV": [
          "RCV001332032",
          "RCV002402922"
        ],
        "variationId": 1030474
      }
    ]
  },
  "type": "amino-acid"
}