{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573089302",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 61,
          "referenceAllele": "K",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NP_008877.2:p.Lys61Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205211",
          "hgvs": "NM_006946.4:c.181A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207896[alleleid]",
        "alleleId": 207896,
        "preferredName": "NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212300",
        "RCV": [
          "RCV000192407",
          "RCV000494630"
        ],
        "variationId": 212300
      }
    ]
  },
  "type": "amino-acid"
}