{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 102,
          "referenceAllele": "K",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NP_000156.1:p.Lys102Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365558626",
          "hgvs": "NM_000165.5:c.306G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA365558628",
          "hgvs": "NM_000165.5:c.306G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=521976[alleleid]",
        "alleleId": 521976,
        "preferredName": "NM_000165.5(GJA1):c.306G>C (p.Lys102Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/537755",
        "RCV": [
          "RCV000646779"
        ],
        "variationId": 537755
      }
    ]
  },
  "type": "amino-acid"
}