{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499241344",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 458,
          "referenceAllele": "I",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "NP_001171673.1:p.Ile458Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352503277",
          "hgvs": "NM_001184744.1:c.1373T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156408"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016264[alleleid]",
        "alleleId": 1016264,
        "preferredName": "NM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030731",
        "RCV": [
          "RCV001332362"
        ],
        "variationId": 1030731
      }
    ]
  },
  "type": "amino-acid"
}