{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499266596",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 50,
          "referenceAllele": "Q",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009119",
      "geneNCBI_id": 9512,
      "geneSymbol": "PMPCB",
      "hgvs": [
        "NP_004270.2:p.Gln50His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4417851",
          "hgvs": "NM_004279.3:c.150A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368734037",
          "hgvs": "NM_004279.3:c.150A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016814[alleleid]",
        "alleleId": 1016814,
        "preferredName": "NM_004279.3(PMPCB):c.150A>C (p.Gln50His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030757",
        "RCV": [
          "RCV001332396"
        ],
        "variationId": 1030757
      }
    ]
  },
  "type": "amino-acid"
}