{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827244778",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 127,
          "referenceAllele": "L",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NP_001311122.1:p.Leu127His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408122816",
          "hgvs": "NM_001324193.2:c.380T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3024405[alleleid]",
        "alleleId": 3024405,
        "preferredName": "NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2869524",
        "RCV": [
          "RCV003611136"
        ],
        "variationId": 2869524
      }
    ]
  },
  "type": "amino-acid"
}