{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827319552",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 125,
          "referenceAllele": "V",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012383",
      "geneNCBI_id": 7260,
      "geneSymbol": "EIPR1",
      "hgvs": [
        "NP_001317459.1:p.Val125Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1514822",
          "hgvs": "NM_001330530.3:c.373G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345732274",
          "hgvs": "NM_001330530.3:c.373G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3238737[alleleid]",
        "alleleId": 3238737,
        "preferredName": "NM_003310.5(EIPR1):c.292G>T (p.Val98Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3088099",
        "RCV": [
          "RCV004380006"
        ],
        "variationId": 3088099
      }
    ]
  },
  "type": "amino-acid"
}