{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826788936",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 382,
          "referenceAllele": "M",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NP_001277716.1:p.Met382Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2167393",
          "hgvs": "NM_001290787.1:c.1146G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351001106",
          "hgvs": "NM_001290787.1:c.1146G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351001108",
          "hgvs": "NM_001290787.1:c.1146G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1892757[alleleid]",
        "alleleId": 1892757,
        "preferredName": "NM_004826.4(ECEL1):c.1146G>A (p.Met382Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2153982",
        "RCV": [
          "RCV003069045",
          "RCV003081557"
        ],
        "variationId": 2153982
      }
    ]
  },
  "type": "amino-acid"
}