{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829034378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 380,
          "referenceAllele": "E",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NP_001372501.1:p.Glu380Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602661",
          "hgvs": "NM_001385572.1:c.1138G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735887"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363085[alleleid]",
        "alleleId": 363085,
        "preferredName": "NM_000125.4(ESR1):c.1138G>C (p.Glu380Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376206",
        "RCV": [
          "RCV000439594"
        ],
        "variationId": 376206
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4539611",
        "RCV": [
          "RCV006273282"
        ],
        "variationId": 4539611
      }
    ]
  },
  "type": "amino-acid"
}