{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645382304",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 257,
          "referenceAllele": "P",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NP_001001557.1:p.Pro257Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10631741",
          "hgvs": "NM_001001557.4:c.770C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147567"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=315503[alleleid]",
        "alleleId": 315503,
        "preferredName": "NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364047",
        "RCV": [
          "RCV000298662",
          "RCV001200311",
          "RCV001861334",
          "RCV004022085"
        ],
        "variationId": 364047
      }
    ]
  },
  "type": "amino-acid"
}