{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916026455",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 875,
          "referenceAllele": "P",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NP_001308971.2:p.Pro875Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172535",
          "hgvs": "NM_001322042.2:c.2624C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706246"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34555[alleleid]",
        "alleleId": 34555,
        "preferredName": "NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21703",
        "RCV": [
          "RCV000146321",
          "RCV001711083",
          "RCV000020901"
        ],
        "variationId": 21703
      }
    ]
  },
  "type": "amino-acid"
}