{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830113307",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 155,
          "referenceAllele": "L",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014374",
      "geneNCBI_id": 22861,
      "geneSymbol": "NLRP1",
      "hgvs": [
        "NP_127499.1:p.Leu155His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018555",
          "hgvs": "NM_033006.4:c.464T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179979"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19202[alleleid]",
        "alleleId": 19202,
        "preferredName": "NM_033004.4(NLRP1):c.464T>A (p.Leu155His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4163",
        "RCV": [
          "RCV000004380",
          "RCV001510771",
          "RCV001781175",
          "RCV001781177",
          "RCV003390641",
          "RCV001781176"
        ],
        "variationId": 4163
      }
    ]
  },
  "type": "amino-acid"
}