{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2034544891",
  "communityStandardTitle": [
    "NM_000289.6(PFKM):c.2001C= (p.Ser667=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367955366",
        "rs": 367955366
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48145039,
          "referenceAllele": "C",
          "start": 48145038
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48145039C=",
        "CM000674.2:g.48145039C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48538822,
          "referenceAllele": "C",
          "start": 48538821
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48538822C=",
        "CM000674.1:g.48538822C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46825089,
          "referenceAllele": "C",
          "start": 46825088
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46825089C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44167,
          "referenceAllele": "C",
          "start": 44166
        }
      ],
      "hgvs": [
        "NG_016199.1:g.44167C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44787,
          "referenceAllele": "C",
          "start": 44786
        }
      ],
      "hgvs": [
        "NG_016199.2:g.44787C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616216"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2347,
          "referenceAllele": "C",
          "start": 2346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550257.7:c.2223C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447997.3:p.Ser741="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.12:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2052,
          "referenceAllele": "C",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.11:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.2001C="
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.2001C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Ser667="
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Ser667="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000549941.7:c.1743C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446829.3:p.Ser581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550345.6:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450369.2:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550924.6:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446945.2:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551339.6:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448253.2:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2454,
          "referenceAllele": "C",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000642730.1:c.2310C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496597.1:p.Ser770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000312352.11:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309438.7:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.10:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2190,
          "referenceAllele": "C",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.9:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2325,
          "referenceAllele": "C",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000546964.5:n.2325C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2841,
          "referenceAllele": "C",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547581.5:c.*2269C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447992.1:n.*2269C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "referenceAllele": "C",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547587.5:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449426.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "C",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551804.5:c.1908C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448177.1:p.Ser636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000553055.1:c.277C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825141932",
      "coordinates": [
        {
          "allele": "C",
          "end": 2186,
          "referenceAllele": "C",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.5:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034347",
      "coordinates": [
        {
          "allele": "C",
          "end": 2488,
          "referenceAllele": "C",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.1:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034801",
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.1:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826035258",
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "referenceAllele": "C",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.1:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268974.1:c.2310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269031.1:p.Ser770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2524,
          "referenceAllele": "C",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268975.1:c.2310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269032.1:p.Ser770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.2:c.2310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Ser770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268977.1:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269034.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268978.2:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269035.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268979.1:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269036.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2226,
          "referenceAllele": "C",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538487.1:c.2217C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536789.1:p.Ser739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538488.1:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536790.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825141932",
      "coordinates": [
        {
          "allele": "C",
          "end": 2052,
          "referenceAllele": "C",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.6:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.2001C="
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.2001C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Ser667="
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Ser667="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034347",
      "coordinates": [
        {
          "allele": "C",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.2:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827929461",
      "coordinates": [
        {
          "allele": "C",
          "end": 2456,
          "referenceAllele": "C",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354735.1:c.2310C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341664.1:p.Ser770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827929819",
      "coordinates": [
        {
          "allele": "C",
          "end": 2515,
          "referenceAllele": "C",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354736.1:c.2310C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341665.1:p.Ser770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827930250",
      "coordinates": [
        {
          "allele": "C",
          "end": 2419,
          "referenceAllele": "C",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354737.1:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341666.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827930713",
      "coordinates": [
        {
          "allele": "C",
          "end": 2289,
          "referenceAllele": "C",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354738.1:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341667.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931165",
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354739.1:c.2214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341668.1:p.Ser738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931615",
      "coordinates": [
        {
          "allele": "C",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354740.1:c.2145C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341669.1:p.Ser715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932065",
      "coordinates": [
        {
          "allele": "C",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.1:c.2025C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Ser675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932522",
      "coordinates": [
        {
          "allele": "C",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.1:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932979",
      "coordinates": [
        {
          "allele": "C",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.1:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933436",
      "coordinates": [
        {
          "allele": "C",
          "end": 2234,
          "referenceAllele": "C",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.1:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933871",
      "coordinates": [
        {
          "allele": "C",
          "end": 2424,
          "referenceAllele": "C",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.1:c.1914C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Ser638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934295",
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "C",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.1:c.1875C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Ser625="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934718",
      "coordinates": [
        {
          "allele": "C",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.1:c.1851C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Ser617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827935136",
      "coordinates": [
        {
          "allele": "C",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.1:c.1851C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Ser617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828100736",
      "coordinates": [
        {
          "allele": "C",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.1:c.1908C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Ser636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.1:n.2438C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3074,
          "referenceAllele": "C",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148955.1:n.3074C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2364,
          "referenceAllele": "C",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.1:n.2364C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "referenceAllele": "C",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.1:n.2593C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.1:n.2341C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2267,
          "referenceAllele": "C",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.1:n.2267C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2567,
          "referenceAllele": "C",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.3:c.2310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Ser770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2278,
          "referenceAllele": "C",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_017019469.1:c.2121C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874958.1:p.Ser707="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2347,
          "referenceAllele": "C",
          "start": 2346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449020.1:c.2223C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304788.1:p.Ser741="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2236,
          "referenceAllele": "C",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449021.1:c.2100C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304789.1:p.Ser700="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2152,
          "referenceAllele": "C",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449022.1:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304790.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034801",
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.2:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826035258",
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "referenceAllele": "C",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.2:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932065",
      "coordinates": [
        {
          "allele": "C",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.2:c.2025C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Ser675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932522",
      "coordinates": [
        {
          "allele": "C",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.2:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932979",
      "coordinates": [
        {
          "allele": "C",
          "end": 2339,
          "referenceAllele": "C",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.2:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933436",
      "coordinates": [
        {
          "allele": "C",
          "end": 2100,
          "referenceAllele": "C",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.2:c.2001C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Ser667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933871",
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.2:c.1914C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Ser638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934295",
      "coordinates": [
        {
          "allele": "C",
          "end": 1926,
          "referenceAllele": "C",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.2:c.1875C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Ser625="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934718",
      "coordinates": [
        {
          "allele": "C",
          "end": 2002,
          "referenceAllele": "C",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.2:c.1851C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Ser617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827935136",
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.2:c.1851C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Ser617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828100736",
      "coordinates": [
        {
          "allele": "C",
          "end": 1959,
          "referenceAllele": "C",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.2:c.1908C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Ser636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.2:n.2304C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2230,
          "referenceAllele": "C",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.2:n.2230C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2459,
          "referenceAllele": "C",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.2:n.2459C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2207,
          "referenceAllele": "C",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.2:n.2207C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.2:n.2133C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731505"
    }
  ],
  "type": "nucleotide"
}