{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096610",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 129,
          "referenceAllele": "L",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "NP_004628.4:p.Leu129Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA219656",
          "hgvs": "NM_004637.6:c.385C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170332"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22384[alleleid]",
        "alleleId": 22384,
        "preferredName": "NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7345",
        "RCV": [
          "RCV000007770",
          "RCV000059221",
          "RCV000789555"
        ],
        "variationId": 7345
      }
    ]
  },
  "type": "amino-acid"
}