{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830047600",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 279,
          "referenceAllele": "P",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NP_079236.3:p.Pro279Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9750964",
          "hgvs": "NM_024960.6:c.836C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178668"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=575099[alleleid]",
        "alleleId": 575099,
        "preferredName": "NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/570102",
        "RCV": [
          "RCV000690887",
          "RCV000764234",
          "RCV001815429"
        ],
        "variationId": 570102
      }
    ]
  },
  "type": "amino-acid"
}