{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645492004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 400,
          "referenceAllele": "Q",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "NP_056110.2:p.Gln400Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602278",
          "hgvs": "NM_015295.3:c.1199A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174438"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362644[alleleid]",
        "alleleId": 362644,
        "preferredName": "NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375763",
        "RCV": [
          "RCV000417324",
          "RCV000497004",
          "RCV000497016"
        ],
        "variationId": 375763
      }
    ]
  },
  "type": "amino-acid"
}