{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741809873",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NP_000074.3:p.Ala331Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA369641786",
          "hgvs": "NM_000083.3:c.991G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707337"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3089011[alleleid]",
        "alleleId": 3089011,
        "preferredName": "NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2921633",
        "RCV": [
          "RCV003782655",
          "RCV004527008",
          "RCV004542250"
        ],
        "variationId": 2921633
      }
    ]
  },
  "type": "amino-acid"
}