{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828981079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 142,
          "referenceAllele": "E",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NP_001371661.1:p.Glu142Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA277763",
          "hgvs": "NM_001384732.1:c.424G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739898"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214229[alleleid]",
        "alleleId": 214229,
        "preferredName": "NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217592",
        "RCV": [
          "RCV000201674",
          "RCV000500106",
          "RCV000686452",
          "RCV001328280",
          "RCV003330576",
          "RCV003907754"
        ],
        "variationId": 217592
      }
    ]
  },
  "type": "amino-acid"
}