{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573089312",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 253,
          "referenceAllele": "L",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NP_008877.2:p.Leu253Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253456",
          "hgvs": "NM_006946.4:c.758T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20314[alleleid]",
        "alleleId": 20314,
        "preferredName": "NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5275",
        "RCV": [
          "RCV000005593",
          "RCV001682706"
        ],
        "variationId": 5275
      }
    ]
  },
  "type": "amino-acid"
}