{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374110462",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1046278[alleleid]",
        "alleleId": 1046278,
        "preferredName": "NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1057783",
        "RCV": [
          "RCV001366838",
          "RCV002357247",
          "RCV003469606",
          "RCV003317488"
        ],
        "variationId": 1057783
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98209519C>T?assembly=hg19",
        "id": "chr9:g.98209519C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95447237C>T?assembly=hg38",
        "id": "chr9:g.95447237C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1218728112",
        "rs": 1218728112
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98209519-C-T?dataset=gnomad_r2_1",
        "id": "9-98209519-C-T",
        "variant": "9:98209519 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447237-C-T?dataset=gnomad_r4",
        "id": "9-95447237-C-T",
        "variant": "9:95447237 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95447237,
          "referenceAllele": "C",
          "start": 95447236
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95447237C>T",
        "CM000671.2:g.95447237C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98209519,
          "referenceAllele": "C",
          "start": 98209518
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98209519C>T",
        "CM000671.1:g.98209519C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97249340,
          "referenceAllele": "C",
          "start": 97249339
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97249340C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74729,
          "referenceAllele": "G",
          "start": 74728
        }
      ],
      "hgvs": [
        "NG_007664.1:g.74729G>A",
        "LRG_515:g.74729G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4321,
          "referenceAllele": "G",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Gly1274Asp",
        "hgvsWellDefined": "ENSP00000518556.1:p.Gly1274Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4167,
          "referenceAllele": "G",
          "start": 4166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.4016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Gly1339Asp",
        "hgvsWellDefined": "ENSP00000389744.2:p.Gly1339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.4016G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.4016G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Gly1339Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Gly1339Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2216,
          "referenceAllele": "G",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.2216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3842,
          "referenceAllele": "G",
          "start": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*2327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*2327G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3707,
          "referenceAllele": "G",
          "start": 3706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Gly1189Asp",
        "hgvsWellDefined": "ENSP00000510238.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.1366G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4924,
          "referenceAllele": "G",
          "start": 4923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.4019G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Gly1340Asp",
        "hgvsWellDefined": "ENSP00000332353.6:p.Gly1340Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.4019G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.4019G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Gly1340Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Gly1340Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4319,
          "referenceAllele": "G",
          "start": 4318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.4019G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Gly1340Asp",
        "hgvsWellDefined": "ENSP00000332353.6:p.Gly1340Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4161,
          "referenceAllele": "G",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.4016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Gly1339Asp",
        "hgvsWellDefined": "ENSP00000364423.2:p.Gly1339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7325,
          "referenceAllele": "G",
          "start": 7324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.7325G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.7325G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4081,
          "referenceAllele": "G",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Gly1189Asp",
        "hgvsWellDefined": "ENSP00000396135.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3925,
          "referenceAllele": "G",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Gly1189Asp",
        "hgvsWellDefined": "ENSP00000399981.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4007,
          "referenceAllele": "G",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Gly1189Asp",
        "hgvsWellDefined": "ENSP00000414823.2:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4407,
          "referenceAllele": "G",
          "start": 4406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Gly1274Asp",
        "hgvsWellDefined": "ENSP00000410287.2:p.Gly1274Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4315,
          "referenceAllele": "G",
          "start": 4314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Gly1274Asp",
        "hgvsWellDefined": "ENSP00000389744.1:p.Gly1274Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.1083G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230595",
      "coordinates": [
        {
          "allele": "A",
          "end": 4207,
          "referenceAllele": "G",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.4019G>A",
        "LRG_515t1:c.4019G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Gly1340Asp",
        "hgvsWellDefined": "NP_000255.2:p.Gly1340Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487519",
      "coordinates": [
        {
          "allele": "A",
          "end": 4315,
          "referenceAllele": "G",
          "start": 4314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3821G>A",
        "LRG_515t2:c.3821G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Gly1274Asp",
        "hgvsWellDefined": "NP_001077071.1:p.Gly1274Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498385",
      "coordinates": [
        {
          "allele": "A",
          "end": 4161,
          "referenceAllele": "G",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.4016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Gly1339Asp",
        "hgvsWellDefined": "NP_001077072.1:p.Gly1339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505175",
      "coordinates": [
        {
          "allele": "A",
          "end": 3925,
          "referenceAllele": "G",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077073.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508409",
      "coordinates": [
        {
          "allele": "A",
          "end": 3908,
          "referenceAllele": "G",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077074.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511407",
      "coordinates": [
        {
          "allele": "A",
          "end": 4007,
          "referenceAllele": "G",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077075.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514150",
      "coordinates": [
        {
          "allele": "A",
          "end": 4081,
          "referenceAllele": "G",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077076.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3765,
          "referenceAllele": "G",
          "start": 3764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Gly1189Asp",
        "hgvsWellDefined": "XP_005252159.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4063,
          "referenceAllele": "G",
          "start": 4062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3863G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Gly1288Asp",
        "hgvsWellDefined": "XP_011517170.1:p.Gly1288Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3714,
          "referenceAllele": "G",
          "start": 3713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Gly1189Asp",
        "hgvsWellDefined": "XP_011517171.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3702,
          "referenceAllele": "G",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Gly1189Asp",
        "hgvsWellDefined": "XP_011517172.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3689,
          "referenceAllele": "G",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Gly1189Asp",
        "hgvsWellDefined": "XP_011517173.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3672,
          "referenceAllele": "G",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Gly1189Asp",
        "hgvsWellDefined": "XP_011517174.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3466,
          "referenceAllele": "G",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.3179G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Gly1060Asp",
        "hgvsWellDefined": "XP_011517175.1:p.Gly1060Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230595",
      "coordinates": [
        {
          "allele": "A",
          "end": 4207,
          "referenceAllele": "G",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.4019G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Gly1340Asp",
        "hgvsWellDefined": "NP_000255.2:p.Gly1340Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487519",
      "coordinates": [
        {
          "allele": "A",
          "end": 4407,
          "referenceAllele": "G",
          "start": 4406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3821G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Gly1274Asp",
        "hgvsWellDefined": "NP_001077071.1:p.Gly1274Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498385",
      "coordinates": [
        {
          "allele": "A",
          "end": 4161,
          "referenceAllele": "G",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.4016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Gly1339Asp",
        "hgvsWellDefined": "NP_001077072.1:p.Gly1339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505175",
      "coordinates": [
        {
          "allele": "A",
          "end": 3925,
          "referenceAllele": "G",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077073.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508409",
      "coordinates": [
        {
          "allele": "A",
          "end": 3908,
          "referenceAllele": "G",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077074.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511407",
      "coordinates": [
        {
          "allele": "A",
          "end": 4007,
          "referenceAllele": "G",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077075.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514150",
      "coordinates": [
        {
          "allele": "A",
          "end": 4081,
          "referenceAllele": "G",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077076.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035460",
      "coordinates": [
        {
          "allele": "A",
          "end": 4051,
          "referenceAllele": "G",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3863G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Gly1288Asp",
        "hgvsWellDefined": "NP_001341847.1:p.Gly1288Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4041,
          "referenceAllele": "G",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.4041G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230595",
      "coordinates": [
        {
          "allele": "A",
          "end": 4924,
          "referenceAllele": "G",
          "start": 4923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.4019G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Gly1340Asp",
        "hgvsWellDefined": "NP_000255.2:p.Gly1340Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.4019G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.4019G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Gly1340Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Gly1340Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511407",
      "coordinates": [
        {
          "allele": "A",
          "end": 4017,
          "referenceAllele": "G",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077075.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035460",
      "coordinates": [
        {
          "allele": "A",
          "end": 4768,
          "referenceAllele": "G",
          "start": 4767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3863G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Gly1288Asp",
        "hgvsWellDefined": "NP_001341847.1:p.Gly1288Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4758,
          "referenceAllele": "G",
          "start": 4757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4758G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487519",
      "coordinates": [
        {
          "allele": "A",
          "end": 4321,
          "referenceAllele": "G",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3821G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Gly1274Asp",
        "hgvsWellDefined": "NP_001077071.1:p.Gly1274Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498385",
      "coordinates": [
        {
          "allele": "A",
          "end": 4167,
          "referenceAllele": "G",
          "start": 4166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.4016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Gly1339Asp",
        "hgvsWellDefined": "NP_001077072.1:p.Gly1339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.4016G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.4016G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Gly1339Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Gly1339Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505175",
      "coordinates": [
        {
          "allele": "A",
          "end": 3925,
          "referenceAllele": "G",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077073.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508409",
      "coordinates": [
        {
          "allele": "A",
          "end": 3908,
          "referenceAllele": "G",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077074.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514150",
      "coordinates": [
        {
          "allele": "A",
          "end": 4081,
          "referenceAllele": "G",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Gly1189Asp",
        "hgvsWellDefined": "NP_001077076.1:p.Gly1189Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}