{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580282948",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 195,
          "referenceAllele": "M",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Met195Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246459818",
          "hgvs": "NM_004004.6:c.583A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387460851",
          "hgvs": "NM_004004.6:c.583A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2028050[alleleid]",
        "alleleId": 2028050,
        "preferredName": "NM_004004.6(GJB2):c.583A>T (p.Met195Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1966753",
        "RCV": [
          "RCV002716802"
        ],
        "variationId": 1966753
      }
    ]
  },
  "type": "amino-acid"
}