{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139686412",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 685,
          "referenceAllele": "K",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Lys685Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA078760",
          "hgvs": "NM_000069.3:c.2055G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344114323",
          "hgvs": "NM_000069.3:c.2055G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=823201[alleleid]",
        "alleleId": 823201,
        "preferredName": "NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/840513",
        "RCV": [
          "RCV001042522",
          "RCV002508281",
          "RCV002481896",
          "RCV003490022",
          "RCV004004750"
        ],
        "variationId": 840513
      }
    ]
  },
  "type": "amino-acid"
}