{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829778556",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "R",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015931",
      "geneNCBI_id": 9751,
      "geneSymbol": "SNPH",
      "hgvs": [
        "NP_055538.2:p.Arg312Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9726989",
          "hgvs": "NM_014723.4:c.934C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173946"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2774030[alleleid]",
        "alleleId": 2774030,
        "preferredName": "NM_001318234.2(SNPH):c.1066C>T (p.Arg356Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2600194",
        "RCV": [
          "RCV004345639"
        ],
        "variationId": 2600194
      }
    ]
  },
  "type": "amino-acid"
}