{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353764704",
  "communityStandardTitle": [
    "NM_015412.4(NEPRO):c.625G>A (p.Ala209Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2241254[alleleid]",
        "alleleId": 2241254,
        "preferredName": "NM_015412.4(NEPRO):c.625G>A (p.Ala209Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2246216",
        "RCV": [
          "RCV004102409"
        ],
        "variationId": 2246216
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.112730180C>T?assembly=hg19",
        "id": "chr3:g.112730180C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.113011333C>T?assembly=hg38",
        "id": "chr3:g.113011333C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1157262640",
        "rs": 1157262640
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-112730180-C-T?dataset=gnomad_r2_1",
        "id": "3-112730180-C-T",
        "variant": "3:112730180 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-113011333-C-T?dataset=gnomad_r3",
        "id": "3-113011333-C-T",
        "variant": "3:113011333 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-113011333-C-T?dataset=gnomad_r4",
        "id": "3-113011333-C-T",
        "variant": "3:113011333 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 113011333,
          "referenceAllele": "C",
          "start": 113011332
        }
      ],
      "hgvs": [
        "NC_000003.12:g.113011333C>T",
        "CM000665.2:g.113011333C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 112730180,
          "referenceAllele": "C",
          "start": 112730179
        }
      ],
      "hgvs": [
        "NC_000003.11:g.112730180C>T",
        "CM000665.1:g.112730180C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 114212870,
          "referenceAllele": "C",
          "start": 114212869
        }
      ],
      "hgvs": [
        "NC_000003.10:g.114212870C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000314400.10:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320251.5:p.Ala209Thr",
        "hgvsWellDefined": "ENSP00000320251.5:p.Ala209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314400.10:c.625G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015412.4:c.625G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320251.5:p.Ala209Thr"
          },
          "RefSeq": {
            "hgvs": "NP_056227.2:p.Ala209Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000314400.9:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320251.5:p.Ala209Thr",
        "hgvsWellDefined": "ENSP00000320251.5:p.Ala209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000383675.6:c.415G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373173.2:p.Ala139Thr",
        "hgvsWellDefined": "ENSP00000373173.2:p.Ala139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000460410.5:c.*363G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419462.1:n.*363G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000461381.5:c.415G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418309.1:p.Ala139Thr",
        "hgvsWellDefined": "ENSP00000418309.1:p.Ala139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000462295.5:c.*286-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417734.1:n.*286-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000469169.5:c.*317G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417968.1:n.*317G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 201,
          "endIntronDirection": "+",
          "endIntronOffset": 2616,
          "referenceAllele": "G",
          "start": 201,
          "startIntronDirection": "+",
          "startIntronOffset": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000469809.5:c.*79+2616G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420577.1:n.*79+2616G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000472637.5:c.*363G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419716.1:n.*363G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 2902,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 2903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000472705.5:c.107-2903G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418677.1:n.107-2903G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000473284.5:c.*359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417983.1:n.*359G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000482229.1:n.204G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 3043,
          "referenceAllele": "C",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025007",
      "geneNCBI_id": 29083,
      "geneSymbol": "GTPBP8",
      "hgvs": [
        "ENST00000485330.5:c.*187-3044C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418877.1:n.*187-3044C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000486271.5:n.1144G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000489848.5:c.*149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420471.1:n.*149G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000491121.1:c.*153G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418902.1:n.*153G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000494164.5:c.*149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419174.1:n.*149G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000494575.5:n.485G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "ENST00000496206.5:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420036.1:n.416G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829824291",
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_015412.3:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056227.2:p.Ala209Thr",
        "hgvsWellDefined": "NP_056227.2:p.Ala209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NR_027794.1:n.535G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NR_027796.1:n.531G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_005247273.1:c.415G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247330.1:p.Ala139Thr",
        "hgvsWellDefined": "XP_005247330.1:p.Ala139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_005247276.1:c.217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247333.1:p.Ala73Thr",
        "hgvsWellDefined": "XP_005247333.1:p.Ala73Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_005247278.2:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247335.1:p.Ala42Thr",
        "hgvsWellDefined": "XP_005247335.1:p.Ala42Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_011512635.1:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510937.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_011512636.1:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510938.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 470,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 470,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_011512637.1:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510939.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 474,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_011512638.1:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510940.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XR_241481.2:n.649G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XR_241482.2:n.439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032354",
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319109.1:c.415G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306038.1:p.Ala139Thr",
        "hgvsWellDefined": "NP_001306038.1:p.Ala139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032364",
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319110.1:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306039.1:p.Ala42Thr",
        "hgvsWellDefined": "NP_001306039.1:p.Ala42Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319111.1:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306040.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580205104",
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319112.1:c.292G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306041.1:p.Ala98Thr",
        "hgvsWellDefined": "NP_001306041.1:p.Ala98Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032413",
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319114.1:c.217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306043.1:p.Ala73Thr",
        "hgvsWellDefined": "NP_001306043.1:p.Ala73Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032425",
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319115.1:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306044.1:p.Ala112Thr",
        "hgvsWellDefined": "NP_001306044.1:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NR_134969.1:n.501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_005247276.2:c.217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247333.1:p.Ala73Thr",
        "hgvsWellDefined": "XP_005247333.1:p.Ala73Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_011512635.2:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510937.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_011512636.2:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510938.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 474,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_011512638.2:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510940.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_017006102.2:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861591.1:p.Ala209Thr",
        "hgvsWellDefined": "XP_016861591.1:p.Ala209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XM_017006103.1:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861592.1:p.Ala112Thr",
        "hgvsWellDefined": "XP_016861592.1:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "XR_241481.3:n.649G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829824291",
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_015412.4:c.625G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056227.2:p.Ala209Thr",
        "hgvsWellDefined": "NP_056227.2:p.Ala209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314400.10:c.625G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015412.4:c.625G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320251.5:p.Ala209Thr"
          },
          "RefSeq": {
            "hgvs": "NP_056227.2:p.Ala209Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032354",
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319109.2:c.415G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306038.1:p.Ala139Thr",
        "hgvsWellDefined": "NP_001306038.1:p.Ala139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032364",
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319110.2:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306039.1:p.Ala42Thr",
        "hgvsWellDefined": "NP_001306039.1:p.Ala42Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "G",
          "start": 420,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319111.2:c.184-168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306040.1:n.184-168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580205104",
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319112.2:c.292G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306041.1:p.Ala98Thr",
        "hgvsWellDefined": "NP_001306041.1:p.Ala98Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032413",
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319114.2:c.217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306043.1:p.Ala73Thr",
        "hgvsWellDefined": "NP_001306043.1:p.Ala73Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827032425",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NM_001319115.2:c.334G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306044.1:p.Ala112Thr",
        "hgvsWellDefined": "NP_001306044.1:p.Ala112Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024496",
      "geneNCBI_id": 25871,
      "geneSymbol": "NEPRO",
      "hgvs": [
        "NR_134969.2:n.439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703565"
    }
  ],
  "type": "nucleotide"
}