{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916062809",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 276,
          "referenceAllele": "W",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NP_751895.1:p.Trp276Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340533",
          "hgvs": "NM_172163.3:c.827G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183182"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21281[alleleid]",
        "alleleId": 21281,
        "preferredName": "NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6242",
        "RCV": [
          "RCV000006620",
          "RCV000211784",
          "RCV001723546"
        ],
        "variationId": 6242
      }
    ]
  },
  "type": "amino-acid"
}