{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573074616",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 322,
          "referenceAllele": "N",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NP_001364959.1:p.Asn322Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA230972",
          "hgvs": "NM_001378030.1:c.966C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394099158",
          "hgvs": "NM_001378030.1:c.966C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737770"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134083[alleleid]",
        "alleleId": 134083,
        "preferredName": "NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128634",
        "RCV": [
          "RCV000116606",
          "RCV001082148"
        ],
        "variationId": 128634
      }
    ]
  },
  "type": "amino-acid"
}