{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2579965461",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 59,
          "referenceAllele": "P",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NP_004691.2:p.Pro59Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA794446",
          "hgvs": "NM_004700.4:c.176C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=732448[alleleid]",
        "alleleId": 732448,
        "preferredName": "NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/730845",
        "RCV": [
          "RCV000905703",
          "RCV003446526",
          "RCV003968312"
        ],
        "variationId": 730845
      }
    ]
  },
  "type": "amino-acid"
}