{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138123",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240662[alleleid]",
        "alleleId": 240662,
        "preferredName": "NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237481",
        "RCV": [
          "RCV000226480",
          "RCV001020562"
        ],
        "variationId": 237481
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98212131-A-G",
        "id": "9-98212131-A-G",
        "variant": "9:98212131 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98212131A>G?assembly=hg19",
        "id": "chr9:g.98212131A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95449849A>G?assembly=hg38",
        "id": "chr9:g.95449849A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367784268",
        "rs": 367784268
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98212131-A-G?dataset=gnomad_r2_1",
        "id": "9-98212131-A-G",
        "variant": "9:98212131 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95449849-A-G?dataset=gnomad_r3",
        "id": "9-95449849-A-G",
        "variant": "9:95449849 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95449849-A-G?dataset=gnomad_r4",
        "id": "9-95449849-A-G",
        "variant": "9:95449849 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95449849,
          "referenceAllele": "A",
          "start": 95449848
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95449849A>G",
        "CM000671.2:g.95449849A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 98212131,
          "referenceAllele": "A",
          "start": 98212130
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98212131A>G",
        "CM000671.1:g.98212131A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97251952,
          "referenceAllele": "A",
          "start": 97251951
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97251952A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72117,
          "referenceAllele": "T",
          "start": 72116
        }
      ],
      "hgvs": [
        "NG_007664.1:g.72117T>C",
        "LRG_515:g.72117T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3843,
          "referenceAllele": "T",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Tyr1115His",
        "hgvsWellDefined": "ENSP00000518556.1:p.Tyr1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3689,
          "referenceAllele": "T",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3538T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Tyr1180His",
        "hgvsWellDefined": "ENSP00000389744.2:p.Tyr1180His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3538T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3538T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Tyr1180His"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Tyr1180His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "T",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.1221T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3364,
          "referenceAllele": "T",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1849T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1849T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3229,
          "referenceAllele": "T",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Tyr1030His",
        "hgvsWellDefined": "ENSP00000510238.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "T",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.888T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4446,
          "referenceAllele": "T",
          "start": 4445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Tyr1181His",
        "hgvsWellDefined": "ENSP00000332353.6:p.Tyr1181His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3541T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3541T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Tyr1181His"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Tyr1181His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3841,
          "referenceAllele": "T",
          "start": 3840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Tyr1181His",
        "hgvsWellDefined": "ENSP00000332353.6:p.Tyr1181His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3683,
          "referenceAllele": "T",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3538T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Tyr1180His",
        "hgvsWellDefined": "ENSP00000364423.2:p.Tyr1180His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6847,
          "referenceAllele": "T",
          "start": 6846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.6847T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.6847T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3603,
          "referenceAllele": "T",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Tyr1030His",
        "hgvsWellDefined": "ENSP00000396135.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3447,
          "referenceAllele": "T",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Tyr1030His",
        "hgvsWellDefined": "ENSP00000399981.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3529,
          "referenceAllele": "T",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Tyr1030His",
        "hgvsWellDefined": "ENSP00000414823.2:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3929,
          "referenceAllele": "T",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Tyr1115His",
        "hgvsWellDefined": "ENSP00000410287.2:p.Tyr1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3837,
          "referenceAllele": "T",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Tyr1115His",
        "hgvsWellDefined": "ENSP00000389744.1:p.Tyr1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "T",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.88T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506573",
      "coordinates": [
        {
          "allele": "C",
          "end": 3729,
          "referenceAllele": "T",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3541T>C",
        "LRG_515t1:c.3541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Tyr1181His",
        "hgvsWellDefined": "NP_000255.2:p.Tyr1181His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490609",
      "coordinates": [
        {
          "allele": "C",
          "end": 3837,
          "referenceAllele": "T",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3343T>C",
        "LRG_515t2:c.3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Tyr1115His",
        "hgvsWellDefined": "NP_001077071.1:p.Tyr1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497389",
      "coordinates": [
        {
          "allele": "C",
          "end": 3683,
          "referenceAllele": "T",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3538T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Tyr1180His",
        "hgvsWellDefined": "NP_001077072.1:p.Tyr1180His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504219",
      "coordinates": [
        {
          "allele": "C",
          "end": 3447,
          "referenceAllele": "T",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077073.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507971",
      "coordinates": [
        {
          "allele": "C",
          "end": 3430,
          "referenceAllele": "T",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077074.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510967",
      "coordinates": [
        {
          "allele": "C",
          "end": 3529,
          "referenceAllele": "T",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077075.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513712",
      "coordinates": [
        {
          "allele": "C",
          "end": 3603,
          "referenceAllele": "T",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077076.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3287,
          "referenceAllele": "T",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Tyr1030His",
        "hgvsWellDefined": "XP_005252159.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3585,
          "referenceAllele": "T",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3385T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Tyr1129His",
        "hgvsWellDefined": "XP_011517170.1:p.Tyr1129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3236,
          "referenceAllele": "T",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Tyr1030His",
        "hgvsWellDefined": "XP_011517171.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3224,
          "referenceAllele": "T",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Tyr1030His",
        "hgvsWellDefined": "XP_011517172.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "T",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Tyr1030His",
        "hgvsWellDefined": "XP_011517173.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3194,
          "referenceAllele": "T",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Tyr1030His",
        "hgvsWellDefined": "XP_011517174.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2988,
          "referenceAllele": "T",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2701T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Tyr901His",
        "hgvsWellDefined": "XP_011517175.1:p.Tyr901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3649,
          "endIntronDirection": "-",
          "endIntronOffset": 525,
          "referenceAllele": "T",
          "start": 3649,
          "startIntronDirection": "-",
          "startIntronOffset": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.3450-526T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:n.3450-526T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506573",
      "coordinates": [
        {
          "allele": "C",
          "end": 3729,
          "referenceAllele": "T",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Tyr1181His",
        "hgvsWellDefined": "NP_000255.2:p.Tyr1181His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490609",
      "coordinates": [
        {
          "allele": "C",
          "end": 3929,
          "referenceAllele": "T",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Tyr1115His",
        "hgvsWellDefined": "NP_001077071.1:p.Tyr1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497389",
      "coordinates": [
        {
          "allele": "C",
          "end": 3683,
          "referenceAllele": "T",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3538T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Tyr1180His",
        "hgvsWellDefined": "NP_001077072.1:p.Tyr1180His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504219",
      "coordinates": [
        {
          "allele": "C",
          "end": 3447,
          "referenceAllele": "T",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077073.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507971",
      "coordinates": [
        {
          "allele": "C",
          "end": 3430,
          "referenceAllele": "T",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077074.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510967",
      "coordinates": [
        {
          "allele": "C",
          "end": 3529,
          "referenceAllele": "T",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077075.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513712",
      "coordinates": [
        {
          "allele": "C",
          "end": 3603,
          "referenceAllele": "T",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077076.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034676",
      "coordinates": [
        {
          "allele": "C",
          "end": 3573,
          "referenceAllele": "T",
          "start": 3572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3385T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Tyr1129His",
        "hgvsWellDefined": "NP_001341847.1:p.Tyr1129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3563,
          "referenceAllele": "T",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3563T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506573",
      "coordinates": [
        {
          "allele": "C",
          "end": 4446,
          "referenceAllele": "T",
          "start": 4445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Tyr1181His",
        "hgvsWellDefined": "NP_000255.2:p.Tyr1181His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3541T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3541T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Tyr1181His"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Tyr1181His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510967",
      "coordinates": [
        {
          "allele": "C",
          "end": 3539,
          "referenceAllele": "T",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077075.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034676",
      "coordinates": [
        {
          "allele": "C",
          "end": 4290,
          "referenceAllele": "T",
          "start": 4289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3385T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Tyr1129His",
        "hgvsWellDefined": "NP_001341847.1:p.Tyr1129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4280,
          "referenceAllele": "T",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4280T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490609",
      "coordinates": [
        {
          "allele": "C",
          "end": 3843,
          "referenceAllele": "T",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Tyr1115His",
        "hgvsWellDefined": "NP_001077071.1:p.Tyr1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497389",
      "coordinates": [
        {
          "allele": "C",
          "end": 3689,
          "referenceAllele": "T",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3538T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Tyr1180His",
        "hgvsWellDefined": "NP_001077072.1:p.Tyr1180His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3538T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3538T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Tyr1180His"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Tyr1180His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504219",
      "coordinates": [
        {
          "allele": "C",
          "end": 3447,
          "referenceAllele": "T",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077073.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507971",
      "coordinates": [
        {
          "allele": "C",
          "end": 3430,
          "referenceAllele": "T",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077074.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513712",
      "coordinates": [
        {
          "allele": "C",
          "end": 3603,
          "referenceAllele": "T",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3088T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Tyr1030His",
        "hgvsWellDefined": "NP_001077076.1:p.Tyr1030His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}