{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916052411",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 336,
          "referenceAllele": "P",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007590",
      "geneNCBI_id": 4638,
      "geneSymbol": "MYLK",
      "hgvs": [
        "NP_444256.3:p.Pro336Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024817",
          "hgvs": "NM_053028.4:c.1007C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580068662",
          "hgvs": "NM_053028.4:c.1005_1007delinsTCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180500"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190915[alleleid]",
        "alleleId": 190915,
        "preferredName": "NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2422341[alleleid]",
        "alleleId": 2422341,
        "preferredName": "NM_053025.4(MYLK):c.1005_1007delinsTCT (p.Pro336Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193752",
        "RCV": [
          "RCV000173911",
          "RCV000680576",
          "RCV000757536",
          "RCV001082109",
          "RCV000769342"
        ],
        "variationId": 193752
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2447218",
        "RCV": [
          "RCV003165127",
          "RCV003396931"
        ],
        "variationId": 2447218
      }
    ]
  },
  "type": "amino-acid"
}