{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826301625",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 242,
          "referenceAllele": "E",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NP_001229391.1:p.Glu242Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119800",
          "hgvs": "NM_001242462.1:c.726G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA359696010",
          "hgvs": "NM_001242462.1:c.726G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23677[alleleid]",
        "alleleId": 23677,
        "preferredName": "NM_000163.5(GHR):c.726G>C (p.Glu242Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8638",
        "RCV": [
          "RCV000009170",
          "RCV002512935"
        ],
        "variationId": 8638
      }
    ]
  },
  "type": "amino-acid"
}