{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825050133",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 2971,
          "referenceAllele": "N",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NP_000072.2:p.Asn2971Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1465729",
          "hgvs": "NM_000081.4:c.8913T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344949911",
          "hgvs": "NM_000081.4:c.8913T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146633"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515575[alleleid]",
        "alleleId": 515575,
        "preferredName": "NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/525179",
        "RCV": [
          "RCV000629223",
          "RCV001027832",
          "RCV002263846",
          "RCV001821769",
          "RCV003928044"
        ],
        "variationId": 525179
      }
    ]
  },
  "type": "amino-acid"
}