{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915961339",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1577,
          "referenceAllele": "D",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Asp1577Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA083561",
          "hgvs": "NM_000069.3:c.4731C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344139589",
          "hgvs": "NM_000069.3:c.4731C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627236[alleleid]",
        "alleleId": 627236,
        "preferredName": "NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1002397[alleleid]",
        "alleleId": 1002397,
        "preferredName": "NM_000069.3(CACNA1S):c.4731C>A (p.Asp1577Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/643903",
        "RCV": [
          "RCV000797715",
          "RCV003517268"
        ],
        "variationId": 643903
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1025854",
        "RCV": [
          "RCV001326229"
        ],
        "variationId": 1025854
      }
    ]
  },
  "type": "amino-acid"
}