{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202045882",
  "communityStandardTitle": [
    "NM_001009944.3(PKD1):c.6299C= (p.Ser2100=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/539793378",
        "rs": 539793378
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2108868,
          "referenceAllele": "G",
          "start": 2108867
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2108868G=",
        "CM000678.2:g.2108868G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2158869,
          "referenceAllele": "G",
          "start": 2158868
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2158869G=",
        "CM000678.1:g.2158869G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2098870,
          "referenceAllele": "G",
          "start": 2098869
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2098870G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32031,
          "referenceAllele": "C",
          "start": 32030
        }
      ],
      "hgvs": [
        "NG_008617.1:g.32031C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.9:c.6299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Ser2100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.6299C="
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.6299C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Ser2100="
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Ser2100="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.8:c.6299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Ser2100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "endIntronDirection": "-",
          "endIntronOffset": 1919,
          "referenceAllele": "C",
          "start": 310,
          "startIntronDirection": "-",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000415938.7:n.311-1920C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000423118.5:c.6299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399501.1:p.Ser2100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "endIntronDirection": "-",
          "endIntronOffset": 1919,
          "referenceAllele": "C",
          "start": 233,
          "startIntronDirection": "-",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000483024.1:c.234-1920C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "endIntronDirection": "-",
          "endIntronOffset": 1919,
          "referenceAllele": "C",
          "start": 790,
          "startIntronDirection": "-",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000483731.5:n.791-1920C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000487932.5:c.986C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457132.1:p.Ser329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000488185.2:c.473-510C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 773,
          "endIntronDirection": "-",
          "endIntronOffset": 1919,
          "referenceAllele": "C",
          "start": 773,
          "startIntronDirection": "-",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000565639.6:n.774-1920C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2226,
          "endIntronDirection": "-",
          "endIntronOffset": 1919,
          "referenceAllele": "C",
          "start": 2226,
          "startIntronDirection": "-",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000568591.5:c.2227-1920C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457162.1:n.2227-1920C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 1919,
          "referenceAllele": "C",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000569983.5:n.422-1920C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.3:c.6299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.3:p.Ser2100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.2:c.6299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.2:p.Ser2100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3407,
          "referenceAllele": "C",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.2:c.3254C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:p.Ser1085="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522525.1:c.6377C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520827.1:p.Ser2126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522526.1:c.6377C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520828.1:p.Ser2126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522527.1:c.6377C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520829.1:p.Ser2126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6368,
          "referenceAllele": "C",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.1:c.6353C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Ser2118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6368,
          "referenceAllele": "C",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.1:c.6353C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Ser2118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6530,
          "referenceAllele": "C",
          "start": 6529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522530.1:c.6323C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520832.1:p.Ser2108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6320,
          "referenceAllele": "C",
          "start": 6319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522531.1:c.6305C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520833.1:p.Ser2102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6458,
          "referenceAllele": "C",
          "start": 6457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522532.1:c.6251C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520834.1:p.Ser2084="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6185,
          "referenceAllele": "C",
          "start": 6184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522533.1:c.6170C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520835.1:p.Ser2057="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6134,
          "referenceAllele": "C",
          "start": 6133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522534.1:c.6113C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520836.1:p.Ser2038="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4548,
          "referenceAllele": "C",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522535.1:c.4199C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520837.1:p.Ser1400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522536.1:c.6377C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520838.1:p.Ser2126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3465,
          "referenceAllele": "C",
          "start": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.1:c.3377C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:p.Ser1126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932867.1:n.6392C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932868.1:n.6392C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932869.1:n.6392C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932870.1:n.6392C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4095,
          "referenceAllele": "C",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.3:c.3254C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:p.Ser1085="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6534,
          "referenceAllele": "C",
          "start": 6533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.3:c.6353C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Ser2118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6534,
          "referenceAllele": "C",
          "start": 6533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.2:c.6353C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Ser2118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3466,
          "referenceAllele": "C",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.2:c.3377C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:p.Ser1126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6434,
          "referenceAllele": "C",
          "start": 6433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450298.1:c.6419C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306066.1:p.Ser2140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6362,
          "referenceAllele": "C",
          "start": 6361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450299.1:c.6347C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306067.1:p.Ser2116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6420,
          "referenceAllele": "C",
          "start": 6419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450300.1:c.6209C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306068.1:p.Ser2070="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4651,
          "referenceAllele": "C",
          "start": 4650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450301.1:c.4295C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306069.1:p.Ser1432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082830657",
      "coordinates": [
        {
          "allele": "C",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.4:c.6299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.4:p.Ser2100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6508,
          "referenceAllele": "C",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.3:c.6299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.3:p.Ser2100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.6299C="
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.6299C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Ser2100="
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Ser2100="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}