{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645452414",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1227,
          "referenceAllele": "R",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NP_000079.2:p.Arg1227His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8644376",
          "hgvs": "NM_000088.4:c.3680G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146640"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415570[alleleid]",
        "alleleId": 415570,
        "preferredName": "NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426558",
        "RCV": [
          "RCV000526752",
          "RCV001712452",
          "RCV002455947",
          "RCV004551617",
          "RCV003488631"
        ],
        "variationId": 426558
      }
    ]
  },
  "type": "amino-acid"
}