{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830331789",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 383,
          "referenceAllele": "Y",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NP_705902.2:p.Tyr383His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408115236",
          "hgvs": "NM_153638.4:c.1147T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182963"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3166719[alleleid]",
        "alleleId": 3166719,
        "preferredName": "NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2997374",
        "RCV": [
          "RCV003851493"
        ],
        "variationId": 2997374
      }
    ]
  },
  "type": "amino-acid"
}