{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA33692937",
  "communityStandardTitle": [
    "NM_014625.4(NPHS2):c.890C>A (p.Ala297Glu)",
    "NM_144696.6(AXDND1):c.3032-3077G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179520570G>T?assembly=hg19",
        "id": "chr1:g.179520570G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179551435G>T?assembly=hg38",
        "id": "chr1:g.179551435G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199506378",
        "rs": 199506378
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 179551435,
          "referenceAllele": "G",
          "start": 179551434
        }
      ],
      "hgvs": [
        "NC_000001.11:g.179551435G>T",
        "CM000663.2:g.179551435G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 179520570,
          "referenceAllele": "G",
          "start": 179520569
        }
      ],
      "hgvs": [
        "NC_000001.10:g.179520570G>T",
        "CM000663.1:g.179520570G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 177787193,
          "referenceAllele": "G",
          "start": 177787192
        }
      ],
      "hgvs": [
        "NC_000001.9:g.177787193G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29515,
          "referenceAllele": "C",
          "start": 29514
        }
      ],
      "hgvs": [
        "NG_007535.1:g.29515C>A",
        "LRG_887:g.29515C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190716,
          "referenceAllele": "G",
          "start": 190715
        }
      ],
      "hgvs": [
        "NG_033075.1:g.190716G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.9:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Ala297Glu",
        "hgvsWellDefined": "ENSP00000356587.4:p.Ala297Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.890C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.890C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Ala297Glu"
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Ala297Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3167,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3167,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000367618.8:c.3032-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356590.3:n.3032-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750053",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367618.8:c.3032-3077G>T"
          },
          "RefSeq": {
            "hgvs": "NM_144696.6:c.3032-3077G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356590.3:n.3032-3077G>T"
          },
          "RefSeq": {
            "hgvs": "NP_653297.3:n.3032-3077G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.8:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Ala297Glu",
        "hgvsWellDefined": "ENSP00000356587.4:p.Ala297Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367616.4:c.686C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356588.4:p.Ala229Glu",
        "hgvsWellDefined": "ENSP00000356588.4:p.Ala229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3418,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3418,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000367618.7:c.3032-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356590.3:n.3032-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2611,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 2611,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000434088.1:c.2612-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391716.1:n.2612-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3416,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3416,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000457238.6:c.*1011-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416712.3:n.*1011-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 470,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000484455.1:n.471-3077G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 910,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000484883.1:n.911-3077G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000489080.1:n.369G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3151,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3151,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000511157.5:c.*1301-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424373.1:n.*1301-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3183,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3183,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "ENST00000617277.4:c.*1207-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482167.1:n.*1207-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.1:c.686C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Ala229Glu",
        "hgvsWellDefined": "NP_001284504.1:p.Ala229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003807",
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.3:c.890C>A",
        "LRG_887t1:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Ala297Glu",
        "hgvsWellDefined": "NP_055440.1:p.Ala297Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3418,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3418,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "NM_144696.5:c.3032-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653297.3:n.3032-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3151,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3151,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "NR_073544.1:n.3152-3077G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.2:c.713C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Ala238Glu",
        "hgvsWellDefined": "XP_005245540.1:p.Ala238Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3403,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3403,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509165.1:c.3038-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507467.1:n.3038-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3436,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3436,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509166.1:c.3038-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507468.1:n.3038-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3551,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3551,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509167.1:c.3038-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507469.1:n.3038-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3407,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3407,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509168.1:c.3038-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507470.1:n.3038-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3196,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3196,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509169.1:c.2975-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507471.1:n.2975-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3295,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3295,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509170.1:c.2930-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507472.1:n.2930-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3221,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3221,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509171.1:c.2912-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507473.1:n.2912-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3095,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3095,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509172.1:c.2912-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507474.1:n.2912-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3149,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3149,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509173.1:c.2912-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507475.1:n.2912-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3181,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509174.1:c.2816-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507476.1:n.2816-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3175,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3175,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509175.1:c.2810-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507477.1:n.2810-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3106,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3106,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509176.1:c.2741-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507478.1:n.2741-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2515,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 2515,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509179.1:c.2402-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507481.1:n.2402-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 2012,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509181.1:c.1961-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507483.1:n.1961-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.3:c.713C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Ala238Glu",
        "hgvsWellDefined": "XP_005245540.1:p.Ala238Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3451,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3451,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509166.3:c.3038-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507468.1:n.3038-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3566,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3566,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509167.3:c.3038-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507469.1:n.3038-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2511,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 2511,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509179.2:c.2402-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507481.1:n.2402-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 2020,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_011509181.2:c.1961-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507483.1:n.1961-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2370,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 2370,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_017000257.2:c.2297-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855746.1:n.2297-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 2402,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_017000258.2:c.2159-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855747.1:n.2159-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002298.1:c.557C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857787.1:p.Ala186Glu",
        "hgvsWellDefined": "XP_016857787.1:p.Ala186Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3246,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3246,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_024453104.1:c.2912-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308872.1:n.2912-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3149,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3149,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "XM_024453107.1:c.2912-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308875.1:n.2912-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3167,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3167,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "NM_144696.6:c.3032-3077G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653297.3:n.3032-3077G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672075",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367618.8:c.3032-3077G>T"
          },
          "RefSeq": {
            "hgvs": "NM_144696.6:c.3032-3077G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356590.3:n.3032-3077G>T"
          },
          "RefSeq": {
            "hgvs": "NP_653297.3:n.3032-3077G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.2:c.686C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Ala229Glu",
        "hgvsWellDefined": "NP_001284504.1:p.Ala229Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064003807",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.4:c.890C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Ala297Glu",
        "hgvsWellDefined": "NP_055440.1:p.Ala297Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.890C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.890C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Ala297Glu"
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Ala297Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3079,
          "endIntronDirection": "-",
          "endIntronOffset": 3076,
          "referenceAllele": "G",
          "start": 3079,
          "startIntronDirection": "-",
          "startIntronOffset": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026564",
      "geneNCBI_id": 126859,
      "geneSymbol": "AXDND1",
      "hgvs": [
        "NR_073544.2:n.3080-3077G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702762"
    }
  ],
  "type": "nucleotide"
}