{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA196558088",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=564225[alleleid]",
        "alleleId": 564225,
        "preferredName": "NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/577136",
        "RCV": [
          "RCV000699814",
          "RCV000764836",
          "RCV001021745",
          "RCV004547867"
        ],
        "variationId": 577136
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98209489C>T?assembly=hg19",
        "id": "chr9:g.98209489C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95447207C>T?assembly=hg38",
        "id": "chr9:g.95447207C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/978722722",
        "rs": 978722722
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447207-C-T?dataset=gnomad_r3",
        "id": "9-95447207-C-T",
        "variant": "9:95447207 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447207-C-T?dataset=gnomad_r4",
        "id": "9-95447207-C-T",
        "variant": "9:95447207 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95447207,
          "referenceAllele": "C",
          "start": 95447206
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95447207C>T",
        "CM000671.2:g.95447207C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98209489,
          "referenceAllele": "C",
          "start": 98209488
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98209489C>T",
        "CM000671.1:g.98209489C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97249310,
          "referenceAllele": "C",
          "start": 97249309
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97249310C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74759,
          "referenceAllele": "G",
          "start": 74758
        }
      ],
      "hgvs": [
        "NG_007664.1:g.74759G>A",
        "LRG_515:g.74759G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Arg1284Gln",
        "hgvsWellDefined": "ENSP00000518556.1:p.Arg1284Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4197,
          "referenceAllele": "G",
          "start": 4196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.4046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Arg1349Gln",
        "hgvsWellDefined": "ENSP00000389744.2:p.Arg1349Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.4046G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.4046G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Arg1349Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Arg1349Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.2246G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3872,
          "referenceAllele": "G",
          "start": 3871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*2357G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*2357G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3737,
          "referenceAllele": "G",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Arg1199Gln",
        "hgvsWellDefined": "ENSP00000510238.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.1396G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "G",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.4049G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Arg1350Gln",
        "hgvsWellDefined": "ENSP00000332353.6:p.Arg1350Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.4049G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.4049G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Arg1350Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Arg1350Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4349,
          "referenceAllele": "G",
          "start": 4348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.4049G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Arg1350Gln",
        "hgvsWellDefined": "ENSP00000332353.6:p.Arg1350Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4191,
          "referenceAllele": "G",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.4046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Arg1349Gln",
        "hgvsWellDefined": "ENSP00000364423.2:p.Arg1349Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7355,
          "referenceAllele": "G",
          "start": 7354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.7355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.7355G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "G",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Arg1199Gln",
        "hgvsWellDefined": "ENSP00000396135.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3955,
          "referenceAllele": "G",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Arg1199Gln",
        "hgvsWellDefined": "ENSP00000399981.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Arg1199Gln",
        "hgvsWellDefined": "ENSP00000414823.2:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4437,
          "referenceAllele": "G",
          "start": 4436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Arg1284Gln",
        "hgvsWellDefined": "ENSP00000410287.2:p.Arg1284Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4345,
          "referenceAllele": "G",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Arg1284Gln",
        "hgvsWellDefined": "ENSP00000389744.1:p.Arg1284Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.1113G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845243",
      "coordinates": [
        {
          "allele": "A",
          "end": 4237,
          "referenceAllele": "G",
          "start": 4236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.4049G>A",
        "LRG_515t1:c.4049G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg1350Gln",
        "hgvsWellDefined": "NP_000255.2:p.Arg1350Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487542",
      "coordinates": [
        {
          "allele": "A",
          "end": 4345,
          "referenceAllele": "G",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3851G>A",
        "LRG_515t2:c.3851G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg1284Gln",
        "hgvsWellDefined": "NP_001077071.1:p.Arg1284Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498474",
      "coordinates": [
        {
          "allele": "A",
          "end": 4191,
          "referenceAllele": "G",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.4046G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg1349Gln",
        "hgvsWellDefined": "NP_001077072.1:p.Arg1349Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505254",
      "coordinates": [
        {
          "allele": "A",
          "end": 3955,
          "referenceAllele": "G",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077073.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508444",
      "coordinates": [
        {
          "allele": "A",
          "end": 3938,
          "referenceAllele": "G",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077074.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511440",
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077075.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514185",
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "G",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077076.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3795,
          "referenceAllele": "G",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Arg1199Gln",
        "hgvsWellDefined": "XP_005252159.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Arg1298Gln",
        "hgvsWellDefined": "XP_011517170.1:p.Arg1298Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3744,
          "referenceAllele": "G",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Arg1199Gln",
        "hgvsWellDefined": "XP_011517171.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3732,
          "referenceAllele": "G",
          "start": 3731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Arg1199Gln",
        "hgvsWellDefined": "XP_011517172.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3719,
          "referenceAllele": "G",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Arg1199Gln",
        "hgvsWellDefined": "XP_011517173.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3702,
          "referenceAllele": "G",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Arg1199Gln",
        "hgvsWellDefined": "XP_011517174.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3496,
          "referenceAllele": "G",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.3209G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Arg1070Gln",
        "hgvsWellDefined": "XP_011517175.1:p.Arg1070Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845243",
      "coordinates": [
        {
          "allele": "A",
          "end": 4237,
          "referenceAllele": "G",
          "start": 4236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.4049G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg1350Gln",
        "hgvsWellDefined": "NP_000255.2:p.Arg1350Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487542",
      "coordinates": [
        {
          "allele": "A",
          "end": 4437,
          "referenceAllele": "G",
          "start": 4436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3851G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg1284Gln",
        "hgvsWellDefined": "NP_001077071.1:p.Arg1284Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498474",
      "coordinates": [
        {
          "allele": "A",
          "end": 4191,
          "referenceAllele": "G",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.4046G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg1349Gln",
        "hgvsWellDefined": "NP_001077072.1:p.Arg1349Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505254",
      "coordinates": [
        {
          "allele": "A",
          "end": 3955,
          "referenceAllele": "G",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077073.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508444",
      "coordinates": [
        {
          "allele": "A",
          "end": 3938,
          "referenceAllele": "G",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077074.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511440",
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077075.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514185",
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "G",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077076.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035510",
      "coordinates": [
        {
          "allele": "A",
          "end": 4081,
          "referenceAllele": "G",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Arg1298Gln",
        "hgvsWellDefined": "NP_001341847.1:p.Arg1298Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4071,
          "referenceAllele": "G",
          "start": 4070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.4071G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845243",
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "G",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.4049G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg1350Gln",
        "hgvsWellDefined": "NP_000255.2:p.Arg1350Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.4049G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.4049G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Arg1350Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Arg1350Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511440",
      "coordinates": [
        {
          "allele": "A",
          "end": 4047,
          "referenceAllele": "G",
          "start": 4046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077075.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035510",
      "coordinates": [
        {
          "allele": "A",
          "end": 4798,
          "referenceAllele": "G",
          "start": 4797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Arg1298Gln",
        "hgvsWellDefined": "NP_001341847.1:p.Arg1298Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4788,
          "referenceAllele": "G",
          "start": 4787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487542",
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3851G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg1284Gln",
        "hgvsWellDefined": "NP_001077071.1:p.Arg1284Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498474",
      "coordinates": [
        {
          "allele": "A",
          "end": 4197,
          "referenceAllele": "G",
          "start": 4196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.4046G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg1349Gln",
        "hgvsWellDefined": "NP_001077072.1:p.Arg1349Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.4046G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.4046G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Arg1349Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Arg1349Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505254",
      "coordinates": [
        {
          "allele": "A",
          "end": 3955,
          "referenceAllele": "G",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077073.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508444",
      "coordinates": [
        {
          "allele": "A",
          "end": 3938,
          "referenceAllele": "G",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077074.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514185",
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "G",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg1199Gln",
        "hgvsWellDefined": "NP_001077076.1:p.Arg1199Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}