{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645491991",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 345,
          "referenceAllele": "Q",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "NP_056110.2:p.Gln345Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602275",
          "hgvs": "NM_015295.3:c.1034A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174438"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362641[alleleid]",
        "alleleId": 362641,
        "preferredName": "NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375760",
        "RCV": [
          "RCV000417316",
          "RCV000497013",
          "RCV002521501"
        ],
        "variationId": 375760
      }
    ]
  },
  "type": "amino-acid"
}