{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828434730",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 192,
          "referenceAllele": "A",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009577",
      "geneNCBI_id": 5723,
      "geneSymbol": "PSPH",
      "hgvs": [
        "NP_001357433.1:p.Ala192Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4268599",
          "hgvs": "NM_001370504.1:c.575C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710401"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1477007[alleleid]",
        "alleleId": 1477007,
        "preferredName": "NM_004577.4(PSPH):c.575C>T (p.Ala192Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1402580",
        "RCV": [
          "RCV001925166"
        ],
        "variationId": 1402580
      }
    ]
  },
  "type": "amino-acid"
}