{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645451916",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 417,
          "referenceAllele": "P",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NP_000079.2:p.Pro417Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8645334",
          "hgvs": "NM_000088.4:c.1249C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146640"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376210[alleleid]",
        "alleleId": 376210,
        "preferredName": "NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/387527",
        "RCV": [
          "RCV000434641",
          "RCV000540512",
          "RCV000766720",
          "RCV001125757",
          "RCV001125756",
          "RCV001127851",
          "RCV002279198"
        ],
        "variationId": 387527
      }
    ]
  },
  "type": "amino-acid"
}