{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA220411",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 117,
          "referenceAllele": "M",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NP_000144.2:p.Met117Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220410",
          "hgvs": "NM_000153.4:c.349A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98413[alleleid]",
        "alleleId": 98413,
        "preferredName": "NM_000153.4(GALC):c.349A>G (p.Met117Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92504",
        "RCV": [
          "RCV000078201",
          "RCV000545705"
        ],
        "variationId": 92504
      }
    ]
  },
  "type": "amino-acid"
}