{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828981479",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1127,
          "referenceAllele": "S",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NP_001371661.1:p.Ser1127Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170947",
          "hgvs": "NM_001384732.1:c.3380C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739898"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167376[alleleid]",
        "alleleId": 167376,
        "preferredName": "NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157515",
        "RCV": [
          "RCV000144860",
          "RCV000501748",
          "RCV000521353"
        ],
        "variationId": 157515
      }
    ]
  },
  "type": "amino-acid"
}