{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827800824",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1415,
          "referenceAllele": "T",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001341173.1:p.Thr1415Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA300913",
          "hgvs": "NM_001354244.2:c.4244C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625402"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188388[alleleid]",
        "alleleId": 188388,
        "preferredName": "NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190571",
        "RCV": [
          "RCV000170701",
          "RCV000250831",
          "RCV000698260",
          "RCV000852553",
          "RCV002478528"
        ],
        "variationId": 190571
      }
    ]
  },
  "type": "amino-acid"
}