{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828129096",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NP_001350908.1:p.Ala761Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172521",
          "hgvs": "NM_001363979.1:c.2282C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2739279880",
          "hgvs": "NM_001363979.1:c.2282_2283delinsTA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625785"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34554[alleleid]",
        "alleleId": 34554,
        "preferredName": "NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3014976[alleleid]",
        "alleleId": 3014976,
        "preferredName": "NM_024596.5(MCPH1):c.2282_2283delinsTA (p.Ala761Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21702",
        "RCV": [
          "RCV000146305",
          "RCV001539339",
          "RCV000020900"
        ],
        "variationId": 21702
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2846801",
        "RCV": [
          "RCV003690482"
        ],
        "variationId": 2846801
      }
    ]
  },
  "type": "amino-acid"
}