{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827346314",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 321,
          "referenceAllele": "F",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NP_001317678.1:p.Phe321Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5174818",
          "hgvs": "NM_001330749.2:c.961T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374423912",
          "hgvs": "NM_001330749.2:c.963T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374423913",
          "hgvs": "NM_001330749.2:c.963T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624935"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310631[alleleid]",
        "alleleId": 310631,
        "preferredName": "NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364568",
        "RCV": [
          "RCV000265311",
          "RCV000823514",
          "RCV002488817"
        ],
        "variationId": 364568
      }
    ]
  },
  "type": "amino-acid"
}