{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5137945",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=563347[alleleid]",
        "alleleId": 563347,
        "preferredName": "NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/577111",
        "RCV": [
          "RCV000699784",
          "RCV000766069",
          "RCV001021931",
          "RCV003478431"
        ],
        "variationId": 577111
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98209400-C-T",
        "id": "9-98209400-C-T",
        "variant": "9:98209400 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98209400C>T?assembly=hg19",
        "id": "chr9:g.98209400C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95447118C>T?assembly=hg38",
        "id": "chr9:g.95447118C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111481152",
        "rs": 111481152
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98209400-C-T?dataset=gnomad_r2_1",
        "id": "9-98209400-C-T",
        "variant": "9:98209400 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447118-C-T?dataset=gnomad_r3",
        "id": "9-95447118-C-T",
        "variant": "9:95447118 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447118-C-T?dataset=gnomad_r4",
        "id": "9-95447118-C-T",
        "variant": "9:95447118 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95447118,
          "referenceAllele": "C",
          "start": 95447117
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95447118C>T",
        "CM000671.2:g.95447118C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98209400,
          "referenceAllele": "C",
          "start": 98209399
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98209400C>T",
        "CM000671.1:g.98209400C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97249221,
          "referenceAllele": "C",
          "start": 97249220
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97249221C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74848,
          "referenceAllele": "G",
          "start": 74847
        }
      ],
      "hgvs": [
        "NG_007664.1:g.74848G>A",
        "LRG_515:g.74848G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4440,
          "referenceAllele": "G",
          "start": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3940G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Ala1314Thr",
        "hgvsWellDefined": "ENSP00000518556.1:p.Ala1314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4286,
          "referenceAllele": "G",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.4135G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Ala1379Thr",
        "hgvsWellDefined": "ENSP00000389744.2:p.Ala1379Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.4135G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.4135G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ala1379Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ala1379Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "referenceAllele": "G",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.2335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3961,
          "referenceAllele": "G",
          "start": 3960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*2446G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*2446G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3826,
          "referenceAllele": "G",
          "start": 3825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Ala1229Thr",
        "hgvsWellDefined": "ENSP00000510238.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.1485G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5043,
          "referenceAllele": "G",
          "start": 5042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.4138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ala1380Thr",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ala1380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.4138G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.4138G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ala1380Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ala1380Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4438,
          "referenceAllele": "G",
          "start": 4437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.4138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ala1380Thr",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ala1380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4280,
          "referenceAllele": "G",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.4135G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Ala1379Thr",
        "hgvsWellDefined": "ENSP00000364423.2:p.Ala1379Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7444,
          "referenceAllele": "G",
          "start": 7443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.7444G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.7444G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4200,
          "referenceAllele": "G",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Ala1229Thr",
        "hgvsWellDefined": "ENSP00000396135.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4044,
          "referenceAllele": "G",
          "start": 4043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Ala1229Thr",
        "hgvsWellDefined": "ENSP00000399981.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4126,
          "referenceAllele": "G",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Ala1229Thr",
        "hgvsWellDefined": "ENSP00000414823.2:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4526,
          "referenceAllele": "G",
          "start": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3940G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Ala1314Thr",
        "hgvsWellDefined": "ENSP00000410287.2:p.Ala1314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4434,
          "referenceAllele": "G",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3940G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Ala1314Thr",
        "hgvsWellDefined": "ENSP00000389744.1:p.Ala1314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.1202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845248",
      "coordinates": [
        {
          "allele": "A",
          "end": 4326,
          "referenceAllele": "G",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.4138G>A",
        "LRG_515t1:c.4138G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala1380Thr",
        "hgvsWellDefined": "NP_000255.2:p.Ala1380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487567",
      "coordinates": [
        {
          "allele": "A",
          "end": 4434,
          "referenceAllele": "G",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3940G>A",
        "LRG_515t2:c.3940G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala1314Thr",
        "hgvsWellDefined": "NP_001077071.1:p.Ala1314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498656",
      "coordinates": [
        {
          "allele": "A",
          "end": 4280,
          "referenceAllele": "G",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.4135G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala1379Thr",
        "hgvsWellDefined": "NP_001077072.1:p.Ala1379Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505450",
      "coordinates": [
        {
          "allele": "A",
          "end": 4044,
          "referenceAllele": "G",
          "start": 4043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077073.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508521",
      "coordinates": [
        {
          "allele": "A",
          "end": 4027,
          "referenceAllele": "G",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077074.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511517",
      "coordinates": [
        {
          "allele": "A",
          "end": 4126,
          "referenceAllele": "G",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077075.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514260",
      "coordinates": [
        {
          "allele": "A",
          "end": 4200,
          "referenceAllele": "G",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077076.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "referenceAllele": "G",
          "start": 3883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Ala1229Thr",
        "hgvsWellDefined": "XP_005252159.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4182,
          "referenceAllele": "G",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3982G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Ala1328Thr",
        "hgvsWellDefined": "XP_011517170.1:p.Ala1328Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3833,
          "referenceAllele": "G",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Ala1229Thr",
        "hgvsWellDefined": "XP_011517171.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3821,
          "referenceAllele": "G",
          "start": 3820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Ala1229Thr",
        "hgvsWellDefined": "XP_011517172.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3808,
          "referenceAllele": "G",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Ala1229Thr",
        "hgvsWellDefined": "XP_011517173.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3791,
          "referenceAllele": "G",
          "start": 3790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Ala1229Thr",
        "hgvsWellDefined": "XP_011517174.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.3298G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Ala1100Thr",
        "hgvsWellDefined": "XP_011517175.1:p.Ala1100Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845248",
      "coordinates": [
        {
          "allele": "A",
          "end": 4326,
          "referenceAllele": "G",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.4138G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala1380Thr",
        "hgvsWellDefined": "NP_000255.2:p.Ala1380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487567",
      "coordinates": [
        {
          "allele": "A",
          "end": 4526,
          "referenceAllele": "G",
          "start": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3940G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala1314Thr",
        "hgvsWellDefined": "NP_001077071.1:p.Ala1314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498656",
      "coordinates": [
        {
          "allele": "A",
          "end": 4280,
          "referenceAllele": "G",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.4135G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala1379Thr",
        "hgvsWellDefined": "NP_001077072.1:p.Ala1379Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505450",
      "coordinates": [
        {
          "allele": "A",
          "end": 4044,
          "referenceAllele": "G",
          "start": 4043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077073.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508521",
      "coordinates": [
        {
          "allele": "A",
          "end": 4027,
          "referenceAllele": "G",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077074.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511517",
      "coordinates": [
        {
          "allele": "A",
          "end": 4126,
          "referenceAllele": "G",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077075.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514260",
      "coordinates": [
        {
          "allele": "A",
          "end": 4200,
          "referenceAllele": "G",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077076.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035650",
      "coordinates": [
        {
          "allele": "A",
          "end": 4170,
          "referenceAllele": "G",
          "start": 4169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3982G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ala1328Thr",
        "hgvsWellDefined": "NP_001341847.1:p.Ala1328Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4160,
          "referenceAllele": "G",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.4160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845248",
      "coordinates": [
        {
          "allele": "A",
          "end": 5043,
          "referenceAllele": "G",
          "start": 5042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.4138G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala1380Thr",
        "hgvsWellDefined": "NP_000255.2:p.Ala1380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.4138G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.4138G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ala1380Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ala1380Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511517",
      "coordinates": [
        {
          "allele": "A",
          "end": 4136,
          "referenceAllele": "G",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077075.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035650",
      "coordinates": [
        {
          "allele": "A",
          "end": 4887,
          "referenceAllele": "G",
          "start": 4886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3982G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ala1328Thr",
        "hgvsWellDefined": "NP_001341847.1:p.Ala1328Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4877,
          "referenceAllele": "G",
          "start": 4876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4877G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487567",
      "coordinates": [
        {
          "allele": "A",
          "end": 4440,
          "referenceAllele": "G",
          "start": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3940G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala1314Thr",
        "hgvsWellDefined": "NP_001077071.1:p.Ala1314Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498656",
      "coordinates": [
        {
          "allele": "A",
          "end": 4286,
          "referenceAllele": "G",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.4135G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala1379Thr",
        "hgvsWellDefined": "NP_001077072.1:p.Ala1379Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.4135G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.4135G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ala1379Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ala1379Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505450",
      "coordinates": [
        {
          "allele": "A",
          "end": 4044,
          "referenceAllele": "G",
          "start": 4043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077073.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508521",
      "coordinates": [
        {
          "allele": "A",
          "end": 4027,
          "referenceAllele": "G",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077074.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514260",
      "coordinates": [
        {
          "allele": "A",
          "end": 4200,
          "referenceAllele": "G",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala1229Thr",
        "hgvsWellDefined": "NP_001077076.1:p.Ala1229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}