{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3206741106",
  "communityStandardTitle": [
    "NM_020806.5(GPHN):c.1838A= (p.Asp613=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397518420",
        "rs": 397518420
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 67159416,
          "referenceAllele": "A",
          "start": 67159415
        }
      ],
      "hgvs": [
        "NC_000014.9:g.67159416A=",
        "CM000676.2:g.67159416A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 67626133,
          "referenceAllele": "A",
          "start": 67626132
        }
      ],
      "hgvs": [
        "NC_000014.8:g.67626133A=",
        "CM000676.1:g.67626133A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 66695886,
          "referenceAllele": "A",
          "start": 66695885
        }
      ],
      "hgvs": [
        "NC_000014.7:g.66695886A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657009,
          "referenceAllele": "A",
          "start": 657008
        }
      ],
      "hgvs": [
        "NG_008875.1:g.657009A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001270"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "A",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000478722.6:c.1838A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417901.1:p.Asp613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000478722.6:c.1838A="
          },
          "RefSeq": {
            "hgvs": "NM_020806.5:c.1838A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417901.1:p.Asp613="
          },
          "RefSeq": {
            "hgvs": "NP_065857.1:p.Asp613="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2860,
          "referenceAllele": "A",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000315266.9:c.1739A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312771.5:p.Asp580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
          "referenceAllele": "A",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000478722.5:c.1838A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417901.1:p.Asp613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "referenceAllele": "A",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000543237.5:c.1877A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438404.1:p.Asp626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "A",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000544752.6:n.1886A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "A",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000555503.1:c.314A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452009.1:p.Asp105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 5745,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 5746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000555527.1:n.370-5746A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "ENST00000557678.1:n.451A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2860,
          "referenceAllele": "A",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001024218.1:c.1739A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019389.1:p.Asp580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081176982",
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
          "referenceAllele": "A",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_020806.4:c.1838A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065857.1:p.Asp613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2390,
          "referenceAllele": "A",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_005267254.2:c.1796A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267311.1:p.Asp599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2600,
          "referenceAllele": "A",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536340.1:c.2006A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534642.1:p.Asp669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2561,
          "referenceAllele": "A",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536342.1:c.1967A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534644.1:p.Asp656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2528,
          "referenceAllele": "A",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536343.1:c.1934A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534645.1:p.Asp645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2501,
          "referenceAllele": "A",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536344.1:c.1907A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534646.1:p.Asp636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2471,
          "referenceAllele": "A",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536345.1:c.1877A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534647.1:p.Asp626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2462,
          "referenceAllele": "A",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536346.1:c.1868A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534648.1:p.Asp623="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2372,
          "referenceAllele": "A",
          "start": 2371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536347.1:c.1778A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534649.1:p.Asp593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536348.1:c.989A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534650.1:p.Asp330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 5565,
          "referenceAllele": "T",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 5566
        }
      ],
      "hgvs": [
        "XR_943947.1:n.123-5566T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 760,
          "referenceAllele": "T",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 759
        }
      ],
      "hgvs": [
        "XR_943948.1:n.789+760T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 5565,
          "referenceAllele": "T",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 5566
        }
      ],
      "hgvs": [
        "XR_943949.1:n.123-5566T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2191,
          "referenceAllele": "A",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_005267254.4:c.1796A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267311.1:p.Asp599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "referenceAllele": "A",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536340.3:c.2006A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534642.1:p.Asp669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2483,
          "referenceAllele": "A",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536342.3:c.1967A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534644.1:p.Asp656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2494,
          "referenceAllele": "A",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536343.3:c.1934A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534645.1:p.Asp645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2467,
          "referenceAllele": "A",
          "start": 2466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536344.3:c.1907A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534646.1:p.Asp636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2437,
          "referenceAllele": "A",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536345.3:c.1877A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534647.1:p.Asp626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "A",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536346.3:c.1868A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534648.1:p.Asp623="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "A",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_011536347.2:c.1778A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534649.1:p.Asp593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2557,
          "referenceAllele": "A",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020913.2:c.1997A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876402.1:p.Asp666="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2509,
          "referenceAllele": "A",
          "start": 2508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020914.2:c.1949A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876403.1:p.Asp650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1952,
          "referenceAllele": "A",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020915.2:c.1898A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876404.1:p.Asp633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2242,
          "referenceAllele": "A",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020916.2:c.1859A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876405.1:p.Asp620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2410,
          "referenceAllele": "A",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020917.2:c.1850A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876406.1:p.Asp617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2395,
          "referenceAllele": "A",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020918.2:c.1835A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876407.1:p.Asp612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2327,
          "referenceAllele": "A",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020919.2:c.1811A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876408.1:p.Asp604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2373,
          "referenceAllele": "A",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020920.2:c.1697A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876409.1:p.Asp566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2663,
          "referenceAllele": "A",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020921.1:c.1637A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876410.1:p.Asp546="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2129,
          "referenceAllele": "A",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020922.1:c.1637A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876411.1:p.Asp546="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2534,
          "referenceAllele": "A",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020923.1:c.1508A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876412.1:p.Asp503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2594,
          "referenceAllele": "A",
          "start": 2593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020924.1:c.989A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876413.1:p.Asp330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "endIntronDirection": "+",
          "endIntronOffset": 100630,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "+",
          "startIntronOffset": 100629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020925.2:c.1312+100630A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876414.1:n.1312+100630A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "A",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020926.1:c.917A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876415.1:p.Asp306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 5565,
          "referenceAllele": "T",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 5566
        }
      ],
      "hgvs": [
        "XR_001750990.1:n.86-5566T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2279,
          "referenceAllele": "A",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001377514.1:c.1898A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364443.1:p.Asp633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "A",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001377515.1:c.1868A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364444.1:p.Asp623="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2240,
          "referenceAllele": "A",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001377516.1:c.1859A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364445.1:p.Asp620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2192,
          "referenceAllele": "A",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001377517.1:c.1811A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364446.1:p.Asp604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001377518.1:c.1796A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364447.1:p.Asp599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2159,
          "referenceAllele": "A",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001377519.1:c.1778A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364448.1:p.Asp593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "referenceAllele": "A",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_001024218.2:c.1739A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019389.1:p.Asp580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081176982",
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "A",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NM_020806.5:c.1838A="
      ],
      "proteinEffect": {
        "hgvs": "NP_065857.1:p.Asp613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000478722.6:c.1838A="
          },
          "RefSeq": {
            "hgvs": "NM_020806.5:c.1838A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417901.1:p.Asp613="
          },
          "RefSeq": {
            "hgvs": "NP_065857.1:p.Asp613="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}