{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453747",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1592,
          "referenceAllele": "M",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Met1592Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10603317",
          "hgvs": "NM_000334.4:c.4776G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400615001",
          "hgvs": "NM_000334.4:c.4776G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400615002",
          "hgvs": "NM_000334.4:c.4776G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264698[alleleid]",
        "alleleId": 264698,
        "preferredName": "NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415577[alleleid]",
        "alleleId": 415577,
        "preferredName": "NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280637",
        "RCV": [
          "RCV000319375"
        ],
        "variationId": 280637
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427072",
        "RCV": [
          "RCV000489768",
          "RCV000763017",
          "RCV001856911"
        ],
        "variationId": 427072
      }
    ]
  },
  "type": "amino-acid"
}