{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827569490",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 563,
          "referenceAllele": "S",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NP_001337679.1:p.Ser563Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16619608",
          "hgvs": "NM_001350750.2:c.1689T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388702937",
          "hgvs": "NM_001350750.2:c.1689T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388702943",
          "hgvs": "NM_001350750.2:c.1687A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408782[alleleid]",
        "alleleId": 408782,
        "preferredName": "NM_052867.4(NALCN):c.1776T>G (p.Ser592Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421882",
        "RCV": [
          "RCV000486031"
        ],
        "variationId": 421882
      }
    ]
  },
  "type": "amino-acid"
}