{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA274986",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 419,
          "referenceAllele": "S",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Ser419Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006028",
          "hgvs": "NM_181798.1:c.1256C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67668[alleleid]",
        "alleleId": 67668,
        "preferredName": "NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53000",
        "RCV": [
          "RCV000046008",
          "RCV000057608",
          "RCV000182209",
          "RCV000619557",
          "RCV001807769",
          "RCV001841635"
        ],
        "variationId": 53000
      }
    ]
  },
  "type": "amino-acid"
}