{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645415988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 993,
          "referenceAllele": "S",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Ser993Arg"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA10608734",
          "hgvs": "NM_000069.3:c.2979C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344163417",
          "hgvs": "NM_000069.3:c.2979C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344163427",
          "hgvs": "NM_000069.3:c.2977A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=278371[alleleid]",
        "alleleId": 278371,
        "preferredName": "NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3232078[alleleid]",
        "alleleId": 3232078,
        "preferredName": "NM_000069.3(CACNA1S):c.2979C>G (p.Ser993Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/294735",
        "RCV": [
          "RCV000290207",
          "RCV002221220",
          "RCV003454890",
          "RCV003458406",
          "RCV004021408"
        ],
        "variationId": 294735
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3071901",
        "RCV": [
          "RCV004011931"
        ],
        "variationId": 3071901
      }
    ]
  },
  "type": "amino-acid"
}