{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138085",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459388[alleleid]",
        "alleleId": 459388,
        "preferredName": "NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453860",
        "RCV": [
          "RCV000529899",
          "RCV000561091",
          "RCV004553164"
        ],
        "variationId": 453860
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98211486-C-T",
        "id": "9-98211486-C-T",
        "variant": "9:98211486 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98211486C>T?assembly=hg19",
        "id": "chr9:g.98211486C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95449204C>T?assembly=hg38",
        "id": "chr9:g.95449204C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780515178",
        "rs": 780515178
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98211486-C-T?dataset=gnomad_r2_1",
        "id": "9-98211486-C-T",
        "variant": "9:98211486 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95449204-C-T?dataset=gnomad_r3",
        "id": "9-95449204-C-T",
        "variant": "9:95449204 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95449204-C-T?dataset=gnomad_r4",
        "id": "9-95449204-C-T",
        "variant": "9:95449204 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95449204,
          "referenceAllele": "C",
          "start": 95449203
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95449204C>T",
        "CM000671.2:g.95449204C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98211486,
          "referenceAllele": "C",
          "start": 98211485
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98211486C>T",
        "CM000671.1:g.98211486C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97251307,
          "referenceAllele": "C",
          "start": 97251306
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97251307C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72762,
          "referenceAllele": "G",
          "start": 72761
        }
      ],
      "hgvs": [
        "NG_007664.1:g.72762G>A",
        "LRG_515:g.72762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3971,
          "referenceAllele": "G",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Ser1157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3817,
          "referenceAllele": "G",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3666G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Ser1222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3666G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3666G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ser1222="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ser1222="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.1866G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3492,
          "referenceAllele": "G",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1977G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1977G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3357,
          "referenceAllele": "G",
          "start": 3356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.1016G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "referenceAllele": "G",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ser1223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3669G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3669G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ser1223="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ser1223="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3969,
          "referenceAllele": "G",
          "start": 3968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ser1223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3811,
          "referenceAllele": "G",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3666G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Ser1222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6975,
          "referenceAllele": "G",
          "start": 6974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.6975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.6975G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3731,
          "referenceAllele": "G",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3575,
          "referenceAllele": "G",
          "start": 3574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3657,
          "referenceAllele": "G",
          "start": 3656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4057,
          "referenceAllele": "G",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Ser1157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3965,
          "referenceAllele": "G",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Ser1157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.733G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122274",
      "coordinates": [
        {
          "allele": "A",
          "end": 3857,
          "referenceAllele": "G",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3669G>A",
        "LRG_515t1:c.3669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ser1223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490794",
      "coordinates": [
        {
          "allele": "A",
          "end": 3965,
          "referenceAllele": "G",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3471G>A",
        "LRG_515t2:c.3471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ser1157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497641",
      "coordinates": [
        {
          "allele": "A",
          "end": 3811,
          "referenceAllele": "G",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3666G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ser1222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504467",
      "coordinates": [
        {
          "allele": "A",
          "end": 3575,
          "referenceAllele": "G",
          "start": 3574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508085",
      "coordinates": [
        {
          "allele": "A",
          "end": 3558,
          "referenceAllele": "G",
          "start": 3557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511080",
      "coordinates": [
        {
          "allele": "A",
          "end": 3657,
          "referenceAllele": "G",
          "start": 3656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513824",
      "coordinates": [
        {
          "allele": "A",
          "end": 3731,
          "referenceAllele": "G",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3415,
          "referenceAllele": "G",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3713,
          "referenceAllele": "G",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3513G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Ser1171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3364,
          "referenceAllele": "G",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3352,
          "referenceAllele": "G",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3339,
          "referenceAllele": "G",
          "start": 3338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3322,
          "referenceAllele": "G",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3116,
          "referenceAllele": "G",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2829G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Ser943="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122274",
      "coordinates": [
        {
          "allele": "A",
          "end": 3857,
          "referenceAllele": "G",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ser1223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490794",
      "coordinates": [
        {
          "allele": "A",
          "end": 4057,
          "referenceAllele": "G",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ser1157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497641",
      "coordinates": [
        {
          "allele": "A",
          "end": 3811,
          "referenceAllele": "G",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3666G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ser1222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504467",
      "coordinates": [
        {
          "allele": "A",
          "end": 3575,
          "referenceAllele": "G",
          "start": 3574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508085",
      "coordinates": [
        {
          "allele": "A",
          "end": 3558,
          "referenceAllele": "G",
          "start": 3557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511080",
      "coordinates": [
        {
          "allele": "A",
          "end": 3657,
          "referenceAllele": "G",
          "start": 3656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513824",
      "coordinates": [
        {
          "allele": "A",
          "end": 3731,
          "referenceAllele": "G",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034900",
      "coordinates": [
        {
          "allele": "A",
          "end": 3701,
          "referenceAllele": "G",
          "start": 3700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ser1171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3691,
          "referenceAllele": "G",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122274",
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "referenceAllele": "G",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ser1223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3669G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3669G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ser1223="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ser1223="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511080",
      "coordinates": [
        {
          "allele": "A",
          "end": 3667,
          "referenceAllele": "G",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034900",
      "coordinates": [
        {
          "allele": "A",
          "end": 4418,
          "referenceAllele": "G",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ser1171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4408,
          "referenceAllele": "G",
          "start": 4407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4408G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490794",
      "coordinates": [
        {
          "allele": "A",
          "end": 3971,
          "referenceAllele": "G",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3471G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ser1157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497641",
      "coordinates": [
        {
          "allele": "A",
          "end": 3817,
          "referenceAllele": "G",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3666G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ser1222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3666G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3666G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ser1222="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ser1222="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504467",
      "coordinates": [
        {
          "allele": "A",
          "end": 3575,
          "referenceAllele": "G",
          "start": 3574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508085",
      "coordinates": [
        {
          "allele": "A",
          "end": 3558,
          "referenceAllele": "G",
          "start": 3557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513824",
      "coordinates": [
        {
          "allele": "A",
          "end": 3731,
          "referenceAllele": "G",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ser1072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}