{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580130916",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 139,
          "referenceAllele": "R",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "NP_001012781.1:p.Arg139Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357054555",
          "hgvs": "NM_001012763.2:c.416G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148842"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2073869[alleleid]",
        "alleleId": 2073869,
        "preferredName": "NM_000406.3(GNRHR):c.416G>T (p.Arg139Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2009505",
        "RCV": [
          "RCV002838481"
        ],
        "variationId": 2009505
      }
    ]
  },
  "type": "amino-acid"
}