{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138315",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=946713[alleleid]",
        "alleleId": 946713,
        "preferredName": "NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/957672",
        "RCV": [
          "RCV001230687"
        ],
        "variationId": 957672
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98221917-T-C",
        "id": "9-98221917-T-C",
        "variant": "9:98221917 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98221917T>C?assembly=hg19",
        "id": "chr9:g.98221917T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95459635T>C?assembly=hg38",
        "id": "chr9:g.95459635T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752126122",
        "rs": 752126122
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98221917-T-C?dataset=gnomad_r2_1",
        "id": "9-98221917-T-C",
        "variant": "9:98221917 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95459635-T-C?dataset=gnomad_r4",
        "id": "9-95459635-T-C",
        "variant": "9:95459635 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95459635,
          "referenceAllele": "T",
          "start": 95459634
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95459635T>C",
        "CM000671.2:g.95459635T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98221917,
          "referenceAllele": "T",
          "start": 98221916
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98221917T>C",
        "CM000671.1:g.98221917T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97261738,
          "referenceAllele": "T",
          "start": 97261737
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97261738T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62331,
          "referenceAllele": "A",
          "start": 62330
        }
      ],
      "hgvs": [
        "NG_007664.1:g.62331A>G",
        "LRG_515:g.62331A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "A",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.2654A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Asp885Gly",
        "hgvsWellDefined": "ENSP00000518556.1:p.Asp885Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3000,
          "referenceAllele": "A",
          "start": 2999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.2849A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Asp950Gly",
        "hgvsWellDefined": "ENSP00000389744.2:p.Asp950Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2849A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2849A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Asp950Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Asp950Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2675,
          "referenceAllele": "A",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1160A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2540,
          "referenceAllele": "A",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Asp800Gly",
        "hgvsWellDefined": "ENSP00000510238.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 183,
          "referenceAllele": "A",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.183A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3757,
          "referenceAllele": "A",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.2852A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Asp951Gly",
        "hgvsWellDefined": "ENSP00000332353.6:p.Asp951Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2852A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2852A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Asp951Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Asp951Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3152,
          "referenceAllele": "A",
          "start": 3151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.2852A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Asp951Gly",
        "hgvsWellDefined": "ENSP00000332353.6:p.Asp951Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2994,
          "referenceAllele": "A",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.2849A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Asp950Gly",
        "hgvsWellDefined": "ENSP00000364423.2:p.Asp950Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2621,
          "referenceAllele": "A",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.2621A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.2621A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2914,
          "referenceAllele": "A",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Asp800Gly",
        "hgvsWellDefined": "ENSP00000396135.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2758,
          "referenceAllele": "A",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Asp800Gly",
        "hgvsWellDefined": "ENSP00000399981.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2840,
          "referenceAllele": "A",
          "start": 2839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Asp800Gly",
        "hgvsWellDefined": "ENSP00000414823.2:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3240,
          "referenceAllele": "A",
          "start": 3239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.2654A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Asp885Gly",
        "hgvsWellDefined": "ENSP00000410287.2:p.Asp885Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3148,
          "referenceAllele": "A",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.2654A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Asp885Gly",
        "hgvsWellDefined": "ENSP00000389744.1:p.Asp885Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "referenceAllele": "A",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000547615.1:n.202A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679470",
      "coordinates": [
        {
          "allele": "G",
          "end": 3040,
          "referenceAllele": "A",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.2852A>G",
        "LRG_515t1:c.2852A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Asp951Gly",
        "hgvsWellDefined": "NP_000255.2:p.Asp951Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487153",
      "coordinates": [
        {
          "allele": "G",
          "end": 3148,
          "referenceAllele": "A",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.2654A>G",
        "LRG_515t2:c.2654A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Asp885Gly",
        "hgvsWellDefined": "NP_001077071.1:p.Asp885Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496314",
      "coordinates": [
        {
          "allele": "G",
          "end": 2994,
          "referenceAllele": "A",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.2849A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Asp950Gly",
        "hgvsWellDefined": "NP_001077072.1:p.Asp950Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503434",
      "coordinates": [
        {
          "allele": "G",
          "end": 2758,
          "referenceAllele": "A",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077073.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507474",
      "coordinates": [
        {
          "allele": "G",
          "end": 2741,
          "referenceAllele": "A",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077074.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510470",
      "coordinates": [
        {
          "allele": "G",
          "end": 2840,
          "referenceAllele": "A",
          "start": 2839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077075.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513339",
      "coordinates": [
        {
          "allele": "G",
          "end": 2914,
          "referenceAllele": "A",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077076.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2598,
          "referenceAllele": "A",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Asp800Gly",
        "hgvsWellDefined": "XP_005252159.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2896,
          "referenceAllele": "A",
          "start": 2895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.2696A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Asp899Gly",
        "hgvsWellDefined": "XP_011517170.1:p.Asp899Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2547,
          "referenceAllele": "A",
          "start": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Asp800Gly",
        "hgvsWellDefined": "XP_011517171.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2535,
          "referenceAllele": "A",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Asp800Gly",
        "hgvsWellDefined": "XP_011517172.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2522,
          "referenceAllele": "A",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Asp800Gly",
        "hgvsWellDefined": "XP_011517173.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2505,
          "referenceAllele": "A",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Asp800Gly",
        "hgvsWellDefined": "XP_011517174.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2299,
          "referenceAllele": "A",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2012A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Asp671Gly",
        "hgvsWellDefined": "XP_011517175.1:p.Asp671Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3052,
          "referenceAllele": "A",
          "start": 3051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.2852A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Asp951Gly",
        "hgvsWellDefined": "XP_011517176.1:p.Asp951Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679470",
      "coordinates": [
        {
          "allele": "G",
          "end": 3040,
          "referenceAllele": "A",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.2852A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Asp951Gly",
        "hgvsWellDefined": "NP_000255.2:p.Asp951Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487153",
      "coordinates": [
        {
          "allele": "G",
          "end": 3240,
          "referenceAllele": "A",
          "start": 3239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.2654A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Asp885Gly",
        "hgvsWellDefined": "NP_001077071.1:p.Asp885Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496314",
      "coordinates": [
        {
          "allele": "G",
          "end": 2994,
          "referenceAllele": "A",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.2849A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Asp950Gly",
        "hgvsWellDefined": "NP_001077072.1:p.Asp950Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503434",
      "coordinates": [
        {
          "allele": "G",
          "end": 2758,
          "referenceAllele": "A",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077073.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507474",
      "coordinates": [
        {
          "allele": "G",
          "end": 2741,
          "referenceAllele": "A",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077074.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510470",
      "coordinates": [
        {
          "allele": "G",
          "end": 2840,
          "referenceAllele": "A",
          "start": 2839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077075.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513339",
      "coordinates": [
        {
          "allele": "G",
          "end": 2914,
          "referenceAllele": "A",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077076.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033901",
      "coordinates": [
        {
          "allele": "G",
          "end": 2884,
          "referenceAllele": "A",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.2696A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Asp899Gly",
        "hgvsWellDefined": "NP_001341847.1:p.Asp899Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2874,
          "referenceAllele": "A",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.2874A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679470",
      "coordinates": [
        {
          "allele": "G",
          "end": 3757,
          "referenceAllele": "A",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.2852A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Asp951Gly",
        "hgvsWellDefined": "NP_000255.2:p.Asp951Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2852A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2852A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Asp951Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Asp951Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510470",
      "coordinates": [
        {
          "allele": "G",
          "end": 2850,
          "referenceAllele": "A",
          "start": 2849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077075.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828033901",
      "coordinates": [
        {
          "allele": "G",
          "end": 3601,
          "referenceAllele": "A",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.2696A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Asp899Gly",
        "hgvsWellDefined": "NP_001341847.1:p.Asp899Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3591,
          "referenceAllele": "A",
          "start": 3590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.3591A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487153",
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "A",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.2654A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Asp885Gly",
        "hgvsWellDefined": "NP_001077071.1:p.Asp885Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825496314",
      "coordinates": [
        {
          "allele": "G",
          "end": 3000,
          "referenceAllele": "A",
          "start": 2999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.2849A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Asp950Gly",
        "hgvsWellDefined": "NP_001077072.1:p.Asp950Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2849A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2849A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Asp950Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Asp950Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503434",
      "coordinates": [
        {
          "allele": "G",
          "end": 2758,
          "referenceAllele": "A",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077073.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507474",
      "coordinates": [
        {
          "allele": "G",
          "end": 2741,
          "referenceAllele": "A",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077074.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513339",
      "coordinates": [
        {
          "allele": "G",
          "end": 2914,
          "referenceAllele": "A",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.2399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Asp800Gly",
        "hgvsWellDefined": "NP_001077076.1:p.Asp800Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}