{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825733317",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 2127,
          "referenceAllele": "D",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001390",
      "geneNCBI_id": 775,
      "geneSymbol": "CACNA1C",
      "hgvs": [
        "NP_001123316.1:p.Asp2127Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA264837",
          "hgvs": "NM_001129844.2:c.6379G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152359"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78453[alleleid]",
        "alleleId": 78453,
        "preferredName": "NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67557",
        "RCV": [
          "RCV000058290",
          "RCV000678917",
          "RCV000170829",
          "RCV001089169",
          "RCV002362692"
        ],
        "variationId": 67557
      }
    ]
  },
  "type": "amino-acid"
}