{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573257783",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 67,
          "referenceAllele": "M",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000791",
      "geneNCBI_id": 22926,
      "geneSymbol": "ATF6",
      "hgvs": [
        "NP_031374.2:p.Met67Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA31726544",
          "hgvs": "NM_007348.4:c.199A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343384432",
          "hgvs": "NM_007348.4:c.199A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172781"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1498564[alleleid]",
        "alleleId": 1498564,
        "preferredName": "NM_007348.4(ATF6):c.199A>T (p.Met67Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1489072",
        "RCV": [
          "RCV002001420"
        ],
        "variationId": 1489072
      }
    ]
  },
  "type": "amino-acid"
}