{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8793800",
  "communityStandardTitle": [
    "NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800386[alleleid]",
        "alleleId": 800386,
        "preferredName": "NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812141",
        "RCV": [
          "RCV001002747",
          "RCV001585911"
        ],
        "variationId": 812141
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-75488782-T-C",
        "id": "17-75488782-T-C",
        "variant": "17:75488782 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75488782T>C?assembly=hg19",
        "id": "chr17:g.75488782T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.77492700T>C?assembly=hg38",
        "id": "chr17:g.77492700T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376712636",
        "rs": 376712636
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75488782-T-C?dataset=gnomad_r2_1",
        "id": "17-75488782-T-C",
        "variant": "17:75488782 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-77492700-T-C?dataset=gnomad_r3",
        "id": "17-77492700-T-C",
        "variant": "17:77492700 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-77492700-T-C?dataset=gnomad_r4",
        "id": "17-77492700-T-C",
        "variant": "17:77492700 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 77492700,
          "referenceAllele": "T",
          "start": 77492699
        }
      ],
      "hgvs": [
        "NC_000017.11:g.77492700T>C",
        "CM000679.2:g.77492700T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75488782,
          "referenceAllele": "T",
          "start": 75488781
        }
      ],
      "hgvs": [
        "NC_000017.10:g.75488782T>C",
        "CM000679.1:g.75488782T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 73000377,
          "referenceAllele": "T",
          "start": 73000376
        }
      ],
      "hgvs": [
        "NC_000017.9:g.73000377T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216291,
          "referenceAllele": "T",
          "start": 216290
        }
      ],
      "hgvs": [
        "NG_011683.1:g.216291T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216291,
          "referenceAllele": "T",
          "start": 216290
        }
      ],
      "hgvs": [
        "NG_011683.2:g.216291T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733328"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2215,
          "referenceAllele": "T",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000329047.13:c.1406T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329161.8:p.Val469Ala",
        "hgvsWellDefined": "ENSP00000329161.8:p.Val469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746958",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000329047.13:c.1406T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006640.5:c.1406T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329161.8:p.Val469Ala"
          },
          "RefSeq": {
            "hgvs": "NP_006631.2:p.Val469Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1497,
          "referenceAllele": "T",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000427177.6:c.1460T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391249.1:p.Val487Ala",
        "hgvsWellDefined": "ENSP00000391249.1:p.Val487Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000427177.6:c.1460T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001113491.2:c.1460T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391249.1:p.Val487Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001106963.1:p.Val487Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "T",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000588690.6:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468668.1:p.Val323Ala",
        "hgvsWellDefined": "ENSP00000468668.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "T",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000589250.6:n.764T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000592481.6:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502589.1:p.Val236Ala",
        "hgvsWellDefined": "ENSP00000502589.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2218,
          "referenceAllele": "T",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000329047.12:c.1406T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329161.8:p.Val469Ala",
        "hgvsWellDefined": "ENSP00000329161.8:p.Val469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1747,
          "referenceAllele": "T",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000423034.6:c.1439T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405877.1:p.Val480Ala",
        "hgvsWellDefined": "ENSP00000405877.1:p.Val480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1586,
          "referenceAllele": "T",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000427177.5:c.1460T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391249.1:p.Val487Ala",
        "hgvsWellDefined": "ENSP00000391249.1:p.Val487Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000427180.5:c.1124T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415624.1:p.Val375Ala",
        "hgvsWellDefined": "ENSP00000415624.1:p.Val375Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000427674.6:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403194.1:p.Val323Ala",
        "hgvsWellDefined": "ENSP00000403194.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1765,
          "referenceAllele": "T",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000431235.6:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406987.2:p.Val323Ala",
        "hgvsWellDefined": "ENSP00000406987.2:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000449803.6:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400181.2:p.Val323Ala",
        "hgvsWellDefined": "ENSP00000400181.2:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "T",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000541152.6:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438089.2:p.Val236Ala",
        "hgvsWellDefined": "ENSP00000438089.2:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000585930.5:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468120.1:p.Val263Ala",
        "hgvsWellDefined": "ENSP00000468120.1:p.Val263Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "T",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000586456.1:n.132T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "T",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000588690.5:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468668.1:p.Val323Ala",
        "hgvsWellDefined": "ENSP00000468668.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "T",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000589250.5:n.260T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2218,
          "referenceAllele": "T",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000590294.5:c.1406T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465464.1:p.Val469Ala",
        "hgvsWellDefined": "ENSP00000465464.1:p.Val469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000591088.5:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466247.1:p.Val236Ala",
        "hgvsWellDefined": "ENSP00000466247.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1488,
          "referenceAllele": "T",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000591198.5:c.1403T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468406.1:p.Val468Ala",
        "hgvsWellDefined": "ENSP00000468406.1:p.Val468Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000592481.5:n.1024T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "ENST00000592951.5:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466648.1:p.Val236Ala",
        "hgvsWellDefined": "ENSP00000466648.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975820",
      "coordinates": [
        {
          "allele": "C",
          "end": 1586,
          "referenceAllele": "T",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113491.1:c.1460T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106963.1:p.Val487Ala",
        "hgvsWellDefined": "NP_001106963.1:p.Val487Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825566308",
      "coordinates": [
        {
          "allele": "C",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113492.1:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106964.1:p.Val323Ala",
        "hgvsWellDefined": "NP_001106964.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825566642",
      "coordinates": [
        {
          "allele": "C",
          "end": 1747,
          "referenceAllele": "T",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113493.1:c.1439T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106965.1:p.Val480Ala",
        "hgvsWellDefined": "NP_001106965.1:p.Val480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825566828",
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113494.1:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106966.1:p.Val323Ala",
        "hgvsWellDefined": "NP_001106966.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113495.1:c.1124T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106967.1:p.Val375Ala",
        "hgvsWellDefined": "NP_001106967.1:p.Val375Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567169",
      "coordinates": [
        {
          "allele": "C",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113496.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106968.1:p.Val236Ala",
        "hgvsWellDefined": "NP_001106968.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826836985",
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "T",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293695.1:c.1403T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280624.1:p.Val468Ala",
        "hgvsWellDefined": "NP_001280624.1:p.Val468Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837151",
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "T",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293696.1:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280625.1:p.Val263Ala",
        "hgvsWellDefined": "NP_001280625.1:p.Val263Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837321",
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293697.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280626.1:p.Val236Ala",
        "hgvsWellDefined": "NP_001280626.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837479",
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293698.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280627.1:p.Val236Ala",
        "hgvsWellDefined": "NP_001280627.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829645686",
      "coordinates": [
        {
          "allele": "C",
          "end": 2218,
          "referenceAllele": "T",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_006640.4:c.1406T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006631.2:p.Val469Ala",
        "hgvsWellDefined": "NP_006631.2:p.Val469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_005256962.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257019.1:p.Val236Ala",
        "hgvsWellDefined": "XP_005257019.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_006721643.2:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721706.1:p.Val323Ala",
        "hgvsWellDefined": "XP_006721706.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "referenceAllele": "T",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_006721644.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721707.1:p.Val236Ala",
        "hgvsWellDefined": "XP_006721707.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "referenceAllele": "T",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_011524204.1:c.1553T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522506.1:p.Val518Ala",
        "hgvsWellDefined": "XP_011522506.1:p.Val518Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "T",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_011524205.1:c.1550T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522507.1:p.Val517Ala",
        "hgvsWellDefined": "XP_011522507.1:p.Val517Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1506,
          "referenceAllele": "T",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_011524206.1:c.1415T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522508.1:p.Val472Ala",
        "hgvsWellDefined": "XP_011522508.1:p.Val472Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "referenceAllele": "T",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_011524207.1:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522509.1:p.Val323Ala",
        "hgvsWellDefined": "XP_011522509.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "referenceAllele": "T",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_011524208.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522510.1:p.Val236Ala",
        "hgvsWellDefined": "XP_011522510.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 875,
          "referenceAllele": "T",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "XM_011524209.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522511.1:p.Val236Ala",
        "hgvsWellDefined": "XP_011522511.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975820",
      "coordinates": [
        {
          "allele": "C",
          "end": 1497,
          "referenceAllele": "T",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113491.2:c.1460T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106963.1:p.Val487Ala",
        "hgvsWellDefined": "NP_001106963.1:p.Val487Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000427177.6:c.1460T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001113491.2:c.1460T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391249.1:p.Val487Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001106963.1:p.Val487Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825566642",
      "coordinates": [
        {
          "allele": "C",
          "end": 1600,
          "referenceAllele": "T",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113493.2:c.1439T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106965.1:p.Val480Ala",
        "hgvsWellDefined": "NP_001106965.1:p.Val480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567169",
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "T",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113496.2:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106968.1:p.Val236Ala",
        "hgvsWellDefined": "NP_001106968.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826836985",
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293695.2:c.1403T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280624.1:p.Val468Ala",
        "hgvsWellDefined": "NP_001280624.1:p.Val468Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837151",
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293696.2:c.788T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280625.1:p.Val263Ala",
        "hgvsWellDefined": "NP_001280625.1:p.Val263Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837321",
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "T",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293697.2:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280626.1:p.Val236Ala",
        "hgvsWellDefined": "NP_001280626.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826837479",
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "T",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001293698.2:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280627.1:p.Val236Ala",
        "hgvsWellDefined": "NP_001280627.1:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825566308",
      "coordinates": [
        {
          "allele": "C",
          "end": 1717,
          "referenceAllele": "T",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113492.2:c.968T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106964.1:p.Val323Ala",
        "hgvsWellDefined": "NP_001106964.1:p.Val323Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825566999",
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_001113495.2:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106967.2:p.Val236Ala",
        "hgvsWellDefined": "NP_001106967.2:p.Val236Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829645686",
      "coordinates": [
        {
          "allele": "C",
          "end": 2215,
          "referenceAllele": "T",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007323",
      "geneNCBI_id": 10801,
      "geneSymbol": "SEPTIN9",
      "hgvs": [
        "NM_006640.5:c.1406T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006631.2:p.Val469Ala",
        "hgvsWellDefined": "NP_006631.2:p.Val469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727760",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000329047.13:c.1406T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006640.5:c.1406T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329161.8:p.Val469Ala"
          },
          "RefSeq": {
            "hgvs": "NP_006631.2:p.Val469Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}