{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827141559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 434,
          "referenceAllele": "T",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NP_001308974.2:p.Thr434Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4610542",
          "hgvs": "NM_001322045.2:c.1301C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733677"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=315106[alleleid]",
        "alleleId": 315106,
        "preferredName": "NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/363525",
        "RCV": [
          "RCV000328196",
          "RCV000504368",
          "RCV000930721",
          "RCV003950289"
        ],
        "variationId": 363525
      }
    ]
  },
  "type": "amino-acid"
}