{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830141008",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1017,
          "referenceAllele": "I",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NP_443099.1:p.Ile1017Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388669129",
          "hgvs": "NM_052867.4:c.3050T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180385"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1706772[alleleid]",
        "alleleId": 1706772,
        "preferredName": "NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1708474",
        "RCV": [
          "RCV004534040",
          "RCV003159077"
        ],
        "variationId": 1708474
      }
    ]
  },
  "type": "amino-acid"
}