{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139686241",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 546,
          "referenceAllele": "S",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Ser546Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA078494",
          "hgvs": "NM_000069.3:c.1637G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863257[alleleid]",
        "alleleId": 863257,
        "preferredName": "NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/875757",
        "RCV": [
          "RCV001099902",
          "RCV001856354",
          "RCV003449554",
          "RCV003490072",
          "RCV003449553",
          "RCV003458628"
        ],
        "variationId": 875757
      }
    ]
  },
  "type": "amino-acid"
}