{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829679358",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 160,
          "referenceAllele": "F",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NP_008877.2:p.Phe160Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA381483557",
          "hgvs": "NM_006946.4:c.480C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381483558",
          "hgvs": "NM_006946.4:c.480C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381483563",
          "hgvs": "NM_006946.4:c.478T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1708400[alleleid]",
        "alleleId": 1708400,
        "preferredName": "NM_006946.4(SPTBN2):c.478T>C (p.Phe160Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1710047",
        "RCV": [
          "RCV002290389"
        ],
        "variationId": 1710047
      }
    ]
  },
  "type": "amino-acid"
}