{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645451813",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 217,
          "referenceAllele": "M",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NP_000079.2:p.Met217Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10650543",
          "hgvs": "NM_000088.4:c.649A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400224832",
          "hgvs": "NM_000088.4:c.649A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146640"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=346565[alleleid]",
        "alleleId": 346565,
        "preferredName": "NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/324116",
        "RCV": [
          "RCV000285300",
          "RCV000342628",
          "RCV000392202",
          "RCV000710774",
          "RCV002521115"
        ],
        "variationId": 324116
      }
    ]
  },
  "type": "amino-acid"
}