{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075426",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NP_001365440.1:p.Ala338Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117622",
          "hgvs": "NM_001378511.1:c.1012G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737930"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20621[alleleid]",
        "alleleId": 20621,
        "preferredName": "NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5582",
        "RCV": [
          "RCV000005924"
        ],
        "variationId": 5582
      }
    ]
  },
  "type": "amino-acid"
}