{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384554391",
  "communityStandardTitle": [
    "NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2898855[alleleid]",
        "alleleId": 2898855,
        "preferredName": "NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2735847",
        "RCV": [
          "RCV003494673"
        ],
        "variationId": 2735847
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48536683A>C?assembly=hg19",
        "id": "chr12:g.48536683A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48142900A>C?assembly=hg38",
        "id": "chr12:g.48142900A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745375312",
        "rs": 745375312
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48142900,
          "referenceAllele": "A",
          "start": 48142899
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48142900A>C",
        "CM000674.2:g.48142900A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48536683,
          "referenceAllele": "A",
          "start": 48536682
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48536683A>C",
        "CM000674.1:g.48536683A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46822950,
          "referenceAllele": "A",
          "start": 46822949
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46822950A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42028,
          "referenceAllele": "A",
          "start": 42027
        }
      ],
      "hgvs": [
        "NG_016199.1:g.42028A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42648,
          "referenceAllele": "A",
          "start": 42647
        }
      ],
      "hgvs": [
        "NG_016199.2:g.42648A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616216"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2118,
          "referenceAllele": "A",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550257.7:c.1994A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447997.3:p.Asp665Ala",
        "hgvsWellDefined": "ENSP00000447997.3:p.Asp665Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "A",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.12:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Asp662Ala",
        "hgvsWellDefined": "ENSP00000345771.6:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1823,
          "referenceAllele": "A",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.11:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Asp591Ala",
        "hgvsWellDefined": "ENSP00000352842.5:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.1772A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.1772A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Asp591Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Asp591Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1795,
          "endIntronDirection": "+",
          "endIntronOffset": 834,
          "referenceAllele": "A",
          "start": 1795,
          "startIntronDirection": "+",
          "startIntronOffset": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000549941.7:c.1560+834A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446829.3:n.1560+834A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "referenceAllele": "A",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550345.6:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450369.2:p.Asp591Ala",
        "hgvsWellDefined": "ENSP00000450369.2:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "A",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550924.6:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446945.2:p.Asp591Ala",
        "hgvsWellDefined": "ENSP00000446945.2:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551339.6:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448253.2:p.Asp591Ala",
        "hgvsWellDefined": "ENSP00000448253.2:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "referenceAllele": "A",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000642730.1:c.2081A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496597.1:p.Asp694Ala",
        "hgvsWellDefined": "ENSP00000496597.1:p.Asp694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "A",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000312352.11:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309438.7:p.Asp591Ala",
        "hgvsWellDefined": "ENSP00000309438.7:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "A",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.10:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Asp662Ala",
        "hgvsWellDefined": "ENSP00000345771.6:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1961,
          "referenceAllele": "A",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.9:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Asp591Ala",
        "hgvsWellDefined": "ENSP00000352842.5:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000546964.5:n.2096A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2612,
          "referenceAllele": "A",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547581.5:c.*2040A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447992.1:n.*2040A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "A",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547587.5:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449426.1:p.Asp591Ala",
        "hgvsWellDefined": "ENSP00000449426.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550802.1:n.490A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551804.5:c.1679A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448177.1:p.Asp560Ala",
        "hgvsWellDefined": "ENSP00000448177.1:p.Asp560Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 834,
          "referenceAllele": "A",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000553055.1:c.94+834A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107855",
      "coordinates": [
        {
          "allele": "C",
          "end": 1957,
          "referenceAllele": "A",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.5:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_000280.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034307",
      "coordinates": [
        {
          "allele": "C",
          "end": 2259,
          "referenceAllele": "A",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.1:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Asp662Ala",
        "hgvsWellDefined": "NP_001160158.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034762",
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "A",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.1:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001160159.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826035218",
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "A",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.1:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001160160.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2156,
          "referenceAllele": "A",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268974.1:c.2081A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269031.1:p.Asp694Ala",
        "hgvsWellDefined": "XP_005269031.1:p.Asp694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "A",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268975.1:c.2081A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269032.1:p.Asp694Ala",
        "hgvsWellDefined": "XP_005269032.1:p.Asp694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2200,
          "referenceAllele": "A",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.2:c.2081A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Asp694Ala",
        "hgvsWellDefined": "XP_005269033.1:p.Asp694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2142,
          "referenceAllele": "A",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268977.1:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269034.1:p.Asp662Ala",
        "hgvsWellDefined": "XP_005269034.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268978.2:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269035.1:p.Asp662Ala",
        "hgvsWellDefined": "XP_005269035.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2142,
          "referenceAllele": "A",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268979.1:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269036.1:p.Asp662Ala",
        "hgvsWellDefined": "XP_005269036.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1997,
          "referenceAllele": "A",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538487.1:c.1988A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536789.1:p.Asp663Ala",
        "hgvsWellDefined": "XP_011536789.1:p.Asp663Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538488.1:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536790.1:p.Asp591Ala",
        "hgvsWellDefined": "XP_011536790.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107855",
      "coordinates": [
        {
          "allele": "C",
          "end": 1823,
          "referenceAllele": "A",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.6:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_000280.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.1772A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.1772A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Asp591Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Asp591Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034307",
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "A",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.2:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Asp662Ala",
        "hgvsWellDefined": "NP_001160158.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827929422",
      "coordinates": [
        {
          "allele": "C",
          "end": 2227,
          "referenceAllele": "A",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354735.1:c.2081A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341664.1:p.Asp694Ala",
        "hgvsWellDefined": "NP_001341664.1:p.Asp694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741867986",
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "referenceAllele": "A",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354736.1:c.2081A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341665.1:p.Asp694Ala",
        "hgvsWellDefined": "NP_001341665.1:p.Asp694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827930210",
      "coordinates": [
        {
          "allele": "C",
          "end": 2190,
          "referenceAllele": "A",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354737.1:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341666.1:p.Asp662Ala",
        "hgvsWellDefined": "NP_001341666.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827930674",
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "A",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354738.1:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341667.1:p.Asp662Ala",
        "hgvsWellDefined": "NP_001341667.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931126",
      "coordinates": [
        {
          "allele": "C",
          "end": 2131,
          "referenceAllele": "A",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354739.1:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341668.1:p.Asp662Ala",
        "hgvsWellDefined": "NP_001341668.1:p.Asp662Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931576",
      "coordinates": [
        {
          "allele": "C",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354740.1:c.1916A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341669.1:p.Asp639Ala",
        "hgvsWellDefined": "NP_001341669.1:p.Asp639Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932025",
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "referenceAllele": "A",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.1:c.1796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Asp599Ala",
        "hgvsWellDefined": "NP_001341670.1:p.Asp599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932483",
      "coordinates": [
        {
          "allele": "C",
          "end": 1947,
          "referenceAllele": "A",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.1:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001341671.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932940",
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "A",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.1:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001341672.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933396",
      "coordinates": [
        {
          "allele": "C",
          "end": 2005,
          "referenceAllele": "A",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.1:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001341673.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933831",
      "coordinates": [
        {
          "allele": "C",
          "end": 2195,
          "referenceAllele": "A",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.1:c.1685A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Asp562Ala",
        "hgvsWellDefined": "NP_001341674.1:p.Asp562Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934256",
      "coordinates": [
        {
          "allele": "C",
          "end": 1831,
          "referenceAllele": "A",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.1:c.1646A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Asp549Ala",
        "hgvsWellDefined": "NP_001341675.1:p.Asp549Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934679",
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "referenceAllele": "A",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.1:c.1622A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Asp541Ala",
        "hgvsWellDefined": "NP_001341676.1:p.Asp541Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827935096",
      "coordinates": [
        {
          "allele": "C",
          "end": 1883,
          "referenceAllele": "A",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.1:c.1622A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Asp541Ala",
        "hgvsWellDefined": "NP_001341677.1:p.Asp541Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828100696",
      "coordinates": [
        {
          "allele": "C",
          "end": 1864,
          "referenceAllele": "A",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.1:c.1679A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Asp560Ala",
        "hgvsWellDefined": "NP_001350548.1:p.Asp560Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "A",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.1:n.2209A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2845,
          "referenceAllele": "A",
          "start": 2844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148955.1:n.2845A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.1:n.2135A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2364,
          "referenceAllele": "A",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.1:n.2364A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2112,
          "referenceAllele": "A",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.1:n.2112A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2038,
          "referenceAllele": "A",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.1:n.2038A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2338,
          "referenceAllele": "A",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.3:c.2081A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Asp694Ala",
        "hgvsWellDefined": "XP_005269033.1:p.Asp694Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2049,
          "referenceAllele": "A",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_017019469.1:c.1892A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874958.1:p.Asp631Ala",
        "hgvsWellDefined": "XP_016874958.1:p.Asp631Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2118,
          "referenceAllele": "A",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449020.1:c.1994A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304788.1:p.Asp665Ala",
        "hgvsWellDefined": "XP_024304788.1:p.Asp665Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2007,
          "referenceAllele": "A",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449021.1:c.1871A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304789.1:p.Asp624Ala",
        "hgvsWellDefined": "XP_024304789.1:p.Asp624Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1923,
          "referenceAllele": "A",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449022.1:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304790.1:p.Asp591Ala",
        "hgvsWellDefined": "XP_024304790.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034762",
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "A",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.2:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001160159.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826035218",
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "A",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.2:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001160160.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932025",
      "coordinates": [
        {
          "allele": "C",
          "end": 1943,
          "referenceAllele": "A",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.2:c.1796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Asp599Ala",
        "hgvsWellDefined": "NP_001341670.1:p.Asp599Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932483",
      "coordinates": [
        {
          "allele": "C",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.2:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001341671.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932940",
      "coordinates": [
        {
          "allele": "C",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.2:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001341672.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933396",
      "coordinates": [
        {
          "allele": "C",
          "end": 1871,
          "referenceAllele": "A",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.2:c.1772A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Asp591Ala",
        "hgvsWellDefined": "NP_001341673.1:p.Asp591Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933831",
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "referenceAllele": "A",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.2:c.1685A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Asp562Ala",
        "hgvsWellDefined": "NP_001341674.1:p.Asp562Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934256",
      "coordinates": [
        {
          "allele": "C",
          "end": 1697,
          "referenceAllele": "A",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.2:c.1646A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Asp549Ala",
        "hgvsWellDefined": "NP_001341675.1:p.Asp549Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934679",
      "coordinates": [
        {
          "allele": "C",
          "end": 1773,
          "referenceAllele": "A",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.2:c.1622A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Asp541Ala",
        "hgvsWellDefined": "NP_001341676.1:p.Asp541Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827935096",
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "referenceAllele": "A",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.2:c.1622A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Asp541Ala",
        "hgvsWellDefined": "NP_001341677.1:p.Asp541Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828100696",
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.2:c.1679A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Asp560Ala",
        "hgvsWellDefined": "NP_001350548.1:p.Asp560Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2075,
          "referenceAllele": "A",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.2:n.2075A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "referenceAllele": "A",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.2:n.2001A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2230,
          "referenceAllele": "A",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.2:n.2230A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "A",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.2:n.1978A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1904,
          "referenceAllele": "A",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.2:n.1904A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731505"
    }
  ],
  "type": "nucleotide"
}