{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830047499",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161,
          "referenceAllele": "D",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NP_079236.3:p.Asp161Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA311035732",
          "hgvs": "NM_024960.6:c.482A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178668"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2995303[alleleid]",
        "alleleId": 2995303,
        "preferredName": "NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2834194",
        "RCV": [
          "RCV003613074"
        ],
        "variationId": 2834194
      }
    ]
  },
  "type": "amino-acid"
}