{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830123717",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 316,
          "referenceAllele": "H",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NP_277043.1:p.His316Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA367399915",
          "hgvs": "NM_033508.3:c.948C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA367399916",
          "hgvs": "NM_033508.3:c.948C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180299"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441094[alleleid]",
        "alleleId": 441094,
        "preferredName": "NM_000162.5(GCK):c.951C>G (p.His317Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3029138[alleleid]",
        "alleleId": 3029138,
        "preferredName": "NM_000162.5(GCK):c.951C>A (p.His317Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447426",
        "RCV": [
          "RCV000516618",
          "RCV002285351",
          "RCV002476041",
          "RCV003235263"
        ],
        "variationId": 447426
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2861776",
        "RCV": [
          "RCV003704517"
        ],
        "variationId": 2861776
      }
    ]
  },
  "type": "amino-acid"
}