{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830010686",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 167,
          "referenceAllele": "F",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003153",
      "geneNCBI_id": 1893,
      "geneSymbol": "ECM1",
      "hgvs": [
        "NP_073155.2:p.Phe167Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118819",
          "hgvs": "NM_022664.3:c.499T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22515[alleleid]",
        "alleleId": 22515,
        "preferredName": "NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7476",
        "RCV": [
          "RCV000007902"
        ],
        "variationId": 7476
      }
    ]
  },
  "type": "amino-acid"
}