{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645415960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 649,
          "referenceAllele": "N",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Asn649His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA078677",
          "hgvs": "NM_000069.3:c.1945A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=279555[alleleid]",
        "alleleId": 279555,
        "preferredName": "NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/294752",
        "RCV": [
          "RCV000267151",
          "RCV000651225",
          "RCV000994231",
          "RCV003298356"
        ],
        "variationId": 294752
      }
    ]
  },
  "type": "amino-acid"
}