{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138272",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3849163",
        "active": true,
        "id": "COSM3849163"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3849164",
        "active": true,
        "id": "COSM3849164"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3849165",
        "active": true,
        "id": "COSM3849165"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3849166",
        "active": true,
        "id": "COSM3849166"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397376[alleleid]",
        "alleleId": 397376,
        "preferredName": "NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409205",
        "RCV": [
          "RCV000469771",
          "RCV000492158",
          "RCV001269257"
        ],
        "variationId": 409205
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98220458-G-A",
        "id": "9-98220458-G-A",
        "variant": "9:98220458 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98220458G>A?assembly=hg19",
        "id": "chr9:g.98220458G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95458176G>A?assembly=hg38",
        "id": "chr9:g.95458176G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769924767",
        "rs": 769924767
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98220458-G-A?dataset=gnomad_r2_1",
        "id": "9-98220458-G-A",
        "variant": "9:98220458 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95458176-G-A?dataset=gnomad_r3",
        "id": "9-95458176-G-A",
        "variant": "9:95458176 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95458176-G-A?dataset=gnomad_r4",
        "id": "9-95458176-G-A",
        "variant": "9:95458176 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 95458176,
          "referenceAllele": "G",
          "start": 95458175
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95458176G>A",
        "CM000671.2:g.95458176G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 98220458,
          "referenceAllele": "G",
          "start": 98220457
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98220458G>A",
        "CM000671.1:g.98220458G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97260279,
          "referenceAllele": "G",
          "start": 97260278
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97260279G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63790,
          "referenceAllele": "C",
          "start": 63789
        }
      ],
      "hgvs": [
        "NG_007664.1:g.63790C>T",
        "LRG_515:g.63790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3307,
          "referenceAllele": "C",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.2807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Thr936Met",
        "hgvsWellDefined": "ENSP00000518556.1:p.Thr936Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3153,
          "referenceAllele": "C",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3002C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Thr1001Met",
        "hgvsWellDefined": "ENSP00000389744.2:p.Thr1001Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3002C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3002C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Thr1001Met"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Thr1001Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2828,
          "referenceAllele": "C",
          "start": 2827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1313C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1313C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2693,
          "referenceAllele": "C",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Thr851Met",
        "hgvsWellDefined": "ENSP00000510238.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.336C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3910,
          "referenceAllele": "C",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3005C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Thr1002Met",
        "hgvsWellDefined": "ENSP00000332353.6:p.Thr1002Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3005C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3005C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Thr1002Met"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Thr1002Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3305,
          "referenceAllele": "C",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3005C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Thr1002Met",
        "hgvsWellDefined": "ENSP00000332353.6:p.Thr1002Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3147,
          "referenceAllele": "C",
          "start": 3146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3002C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Thr1001Met",
        "hgvsWellDefined": "ENSP00000364423.2:p.Thr1001Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2774,
          "referenceAllele": "C",
          "start": 2773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.2774C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.2774C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3067,
          "referenceAllele": "C",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Thr851Met",
        "hgvsWellDefined": "ENSP00000396135.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2911,
          "referenceAllele": "C",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Thr851Met",
        "hgvsWellDefined": "ENSP00000399981.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "C",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Thr851Met",
        "hgvsWellDefined": "ENSP00000414823.2:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3393,
          "referenceAllele": "C",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.2807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Thr936Met",
        "hgvsWellDefined": "ENSP00000410287.2:p.Thr936Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3301,
          "referenceAllele": "C",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.2807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Thr936Met",
        "hgvsWellDefined": "ENSP00000389744.1:p.Thr936Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000547615.1:n.355C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121577",
      "coordinates": [
        {
          "allele": "T",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3005C>T",
        "LRG_515t1:c.3005C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Thr1002Met",
        "hgvsWellDefined": "NP_000255.2:p.Thr1002Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645507996",
      "coordinates": [
        {
          "allele": "T",
          "end": 3301,
          "referenceAllele": "C",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.2807C>T",
        "LRG_515t2:c.2807C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Thr936Met",
        "hgvsWellDefined": "NP_001077071.1:p.Thr936Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496539",
      "coordinates": [
        {
          "allele": "T",
          "end": 3147,
          "referenceAllele": "C",
          "start": 3146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Thr1001Met",
        "hgvsWellDefined": "NP_001077072.1:p.Thr1001Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503541",
      "coordinates": [
        {
          "allele": "T",
          "end": 2911,
          "referenceAllele": "C",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077073.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507585",
      "coordinates": [
        {
          "allele": "T",
          "end": 2894,
          "referenceAllele": "C",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077074.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510581",
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "C",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077075.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513449",
      "coordinates": [
        {
          "allele": "T",
          "end": 3067,
          "referenceAllele": "C",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077076.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "C",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Thr851Met",
        "hgvsWellDefined": "XP_005252159.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.2849C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Thr950Met",
        "hgvsWellDefined": "XP_011517170.1:p.Thr950Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2700,
          "referenceAllele": "C",
          "start": 2699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Thr851Met",
        "hgvsWellDefined": "XP_011517171.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2688,
          "referenceAllele": "C",
          "start": 2687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Thr851Met",
        "hgvsWellDefined": "XP_011517172.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2675,
          "referenceAllele": "C",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Thr851Met",
        "hgvsWellDefined": "XP_011517173.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2658,
          "referenceAllele": "C",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Thr851Met",
        "hgvsWellDefined": "XP_011517174.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "C",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Thr722Met",
        "hgvsWellDefined": "XP_011517175.1:p.Thr722Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3205,
          "referenceAllele": "C",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.3005C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Thr1002Met",
        "hgvsWellDefined": "XP_011517176.1:p.Thr1002Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121577",
      "coordinates": [
        {
          "allele": "T",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3005C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Thr1002Met",
        "hgvsWellDefined": "NP_000255.2:p.Thr1002Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645507996",
      "coordinates": [
        {
          "allele": "T",
          "end": 3393,
          "referenceAllele": "C",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.2807C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Thr936Met",
        "hgvsWellDefined": "NP_001077071.1:p.Thr936Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496539",
      "coordinates": [
        {
          "allele": "T",
          "end": 3147,
          "referenceAllele": "C",
          "start": 3146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Thr1001Met",
        "hgvsWellDefined": "NP_001077072.1:p.Thr1001Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503541",
      "coordinates": [
        {
          "allele": "T",
          "end": 2911,
          "referenceAllele": "C",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077073.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507585",
      "coordinates": [
        {
          "allele": "T",
          "end": 2894,
          "referenceAllele": "C",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077074.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510581",
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "C",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077075.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513449",
      "coordinates": [
        {
          "allele": "T",
          "end": 3067,
          "referenceAllele": "C",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077076.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042950",
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "referenceAllele": "C",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.2849C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Thr950Met",
        "hgvsWellDefined": "NP_001341847.1:p.Thr950Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3027,
          "referenceAllele": "C",
          "start": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3027C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121577",
      "coordinates": [
        {
          "allele": "T",
          "end": 3910,
          "referenceAllele": "C",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3005C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Thr1002Met",
        "hgvsWellDefined": "NP_000255.2:p.Thr1002Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3005C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3005C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Thr1002Met"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Thr1002Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510581",
      "coordinates": [
        {
          "allele": "T",
          "end": 3003,
          "referenceAllele": "C",
          "start": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077075.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042950",
      "coordinates": [
        {
          "allele": "T",
          "end": 3754,
          "referenceAllele": "C",
          "start": 3753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.2849C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Thr950Met",
        "hgvsWellDefined": "NP_001341847.1:p.Thr950Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3744,
          "referenceAllele": "C",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.3744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645507996",
      "coordinates": [
        {
          "allele": "T",
          "end": 3307,
          "referenceAllele": "C",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.2807C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Thr936Met",
        "hgvsWellDefined": "NP_001077071.1:p.Thr936Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496539",
      "coordinates": [
        {
          "allele": "T",
          "end": 3153,
          "referenceAllele": "C",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Thr1001Met",
        "hgvsWellDefined": "NP_001077072.1:p.Thr1001Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3002C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3002C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Thr1001Met"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Thr1001Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503541",
      "coordinates": [
        {
          "allele": "T",
          "end": 2911,
          "referenceAllele": "C",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077073.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507585",
      "coordinates": [
        {
          "allele": "T",
          "end": 2894,
          "referenceAllele": "C",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077074.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513449",
      "coordinates": [
        {
          "allele": "T",
          "end": 3067,
          "referenceAllele": "C",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.2552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Thr851Met",
        "hgvsWellDefined": "NP_001077076.1:p.Thr851Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}