{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096631",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 162,
          "referenceAllele": "V",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009788",
      "geneNCBI_id": 7879,
      "geneSymbol": "RAB7A",
      "hgvs": [
        "NP_004628.4:p.Val162Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA219662",
          "hgvs": "NM_004637.6:c.484G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170332"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22385[alleleid]",
        "alleleId": 22385,
        "preferredName": "NM_004637.6(RAB7A):c.484G>A (p.Val162Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7346",
        "RCV": [
          "RCV000007771",
          "RCV000059224",
          "RCV000789554"
        ],
        "variationId": 7346
      }
    ]
  },
  "type": "amino-acid"
}