{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA128974",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 78,
          "referenceAllele": "L",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001546",
      "geneNCBI_id": 871,
      "geneSymbol": "SERPINH1",
      "hgvs": [
        "NP_001226.2:p.Leu78Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128973",
          "hgvs": "NM_001235.5:c.233T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158517"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39097[alleleid]",
        "alleleId": 39097,
        "preferredName": "NM_001235.5(SERPINH1):c.233T>C (p.Leu78Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30141",
        "RCV": [
          "RCV000023052"
        ],
        "variationId": 30141
      }
    ]
  },
  "type": "amino-acid"
}