{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138163",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1405297[alleleid]",
        "alleleId": 1405297,
        "preferredName": "NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1404536",
        "RCV": [
          "RCV001901694",
          "RCV002458770"
        ],
        "variationId": 1404536
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98215838-G-A",
        "id": "9-98215838-G-A",
        "variant": "9:98215838 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98215838G>A?assembly=hg19",
        "id": "chr9:g.98215838G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95453556G>A?assembly=hg38",
        "id": "chr9:g.95453556G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374187104",
        "rs": 374187104
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98215838-G-A?dataset=gnomad_r2_1",
        "id": "9-98215838-G-A",
        "variant": "9:98215838 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95453556-G-A?dataset=gnomad_r3",
        "id": "9-95453556-G-A",
        "variant": "9:95453556 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95453556-G-A?dataset=gnomad_r4",
        "id": "9-95453556-G-A",
        "variant": "9:95453556 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 95453556,
          "referenceAllele": "G",
          "start": 95453555
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95453556G>A",
        "CM000671.2:g.95453556G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 98215838,
          "referenceAllele": "G",
          "start": 98215837
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98215838G>A",
        "CM000671.1:g.98215838G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97255659,
          "referenceAllele": "G",
          "start": 97255658
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97255659G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68410,
          "referenceAllele": "C",
          "start": 68409
        }
      ],
      "hgvs": [
        "NG_007664.1:g.68410C>T",
        "LRG_515:g.68410C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3673,
          "referenceAllele": "C",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Ala1058Val",
        "hgvsWellDefined": "ENSP00000518556.1:p.Ala1058Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3519,
          "referenceAllele": "C",
          "start": 3518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Ala1123Val",
        "hgvsWellDefined": "ENSP00000389744.2:p.Ala1123Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3368C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3368C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ala1123Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ala1123Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3194,
          "referenceAllele": "C",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1679C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1679C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3059,
          "referenceAllele": "C",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Ala973Val",
        "hgvsWellDefined": "ENSP00000510238.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.702C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4276,
          "referenceAllele": "C",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3371C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ala1124Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ala1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3371C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3371C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ala1124Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ala1124Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3671,
          "referenceAllele": "C",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3371C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ala1124Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ala1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3513,
          "referenceAllele": "C",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Ala1123Val",
        "hgvsWellDefined": "ENSP00000364423.2:p.Ala1123Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3140,
          "referenceAllele": "C",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.3140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.3140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3433,
          "referenceAllele": "C",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Ala973Val",
        "hgvsWellDefined": "ENSP00000396135.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Ala973Val",
        "hgvsWellDefined": "ENSP00000399981.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3359,
          "referenceAllele": "C",
          "start": 3358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Ala973Val",
        "hgvsWellDefined": "ENSP00000414823.2:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3759,
          "referenceAllele": "C",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Ala1058Val",
        "hgvsWellDefined": "ENSP00000410287.2:p.Ala1058Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3667,
          "referenceAllele": "C",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Ala1058Val",
        "hgvsWellDefined": "ENSP00000389744.1:p.Ala1058Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122018",
      "coordinates": [
        {
          "allele": "T",
          "end": 3559,
          "referenceAllele": "C",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3371C>T",
        "LRG_515t1:c.3371C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala1124Val",
        "hgvsWellDefined": "NP_000255.2:p.Ala1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487278",
      "coordinates": [
        {
          "allele": "T",
          "end": 3667,
          "referenceAllele": "C",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3173C>T",
        "LRG_515t2:c.3173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala1058Val",
        "hgvsWellDefined": "NP_001077071.1:p.Ala1058Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497138",
      "coordinates": [
        {
          "allele": "T",
          "end": 3513,
          "referenceAllele": "C",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala1123Val",
        "hgvsWellDefined": "NP_001077072.1:p.Ala1123Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503979",
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077073.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507850",
      "coordinates": [
        {
          "allele": "T",
          "end": 3260,
          "referenceAllele": "C",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077074.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510847",
      "coordinates": [
        {
          "allele": "T",
          "end": 3359,
          "referenceAllele": "C",
          "start": 3358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077075.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573177667",
      "coordinates": [
        {
          "allele": "T",
          "end": 3433,
          "referenceAllele": "C",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077076.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3117,
          "referenceAllele": "C",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Ala973Val",
        "hgvsWellDefined": "XP_005252159.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3415,
          "referenceAllele": "C",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3215C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Ala1072Val",
        "hgvsWellDefined": "XP_011517170.1:p.Ala1072Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Ala973Val",
        "hgvsWellDefined": "XP_011517171.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3054,
          "referenceAllele": "C",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Ala973Val",
        "hgvsWellDefined": "XP_011517172.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3041,
          "referenceAllele": "C",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Ala973Val",
        "hgvsWellDefined": "XP_011517173.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3024,
          "referenceAllele": "C",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Ala973Val",
        "hgvsWellDefined": "XP_011517174.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2818,
          "referenceAllele": "C",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Ala844Val",
        "hgvsWellDefined": "XP_011517175.1:p.Ala844Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3571,
          "referenceAllele": "C",
          "start": 3570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.3371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Ala1124Val",
        "hgvsWellDefined": "XP_011517176.1:p.Ala1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122018",
      "coordinates": [
        {
          "allele": "T",
          "end": 3559,
          "referenceAllele": "C",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3371C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala1124Val",
        "hgvsWellDefined": "NP_000255.2:p.Ala1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487278",
      "coordinates": [
        {
          "allele": "T",
          "end": 3759,
          "referenceAllele": "C",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala1058Val",
        "hgvsWellDefined": "NP_001077071.1:p.Ala1058Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497138",
      "coordinates": [
        {
          "allele": "T",
          "end": 3513,
          "referenceAllele": "C",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala1123Val",
        "hgvsWellDefined": "NP_001077072.1:p.Ala1123Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503979",
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077073.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507850",
      "coordinates": [
        {
          "allele": "T",
          "end": 3260,
          "referenceAllele": "C",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077074.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510847",
      "coordinates": [
        {
          "allele": "T",
          "end": 3359,
          "referenceAllele": "C",
          "start": 3358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077075.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573177667",
      "coordinates": [
        {
          "allele": "T",
          "end": 3433,
          "referenceAllele": "C",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077076.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034462",
      "coordinates": [
        {
          "allele": "T",
          "end": 3403,
          "referenceAllele": "C",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3215C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ala1072Val",
        "hgvsWellDefined": "NP_001341847.1:p.Ala1072Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3393,
          "referenceAllele": "C",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3393C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122018",
      "coordinates": [
        {
          "allele": "T",
          "end": 4276,
          "referenceAllele": "C",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3371C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala1124Val",
        "hgvsWellDefined": "NP_000255.2:p.Ala1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3371C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3371C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ala1124Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ala1124Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510847",
      "coordinates": [
        {
          "allele": "T",
          "end": 3369,
          "referenceAllele": "C",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077075.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034462",
      "coordinates": [
        {
          "allele": "T",
          "end": 4120,
          "referenceAllele": "C",
          "start": 4119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3215C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ala1072Val",
        "hgvsWellDefined": "NP_001341847.1:p.Ala1072Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4110,
          "referenceAllele": "C",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487278",
      "coordinates": [
        {
          "allele": "T",
          "end": 3673,
          "referenceAllele": "C",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala1058Val",
        "hgvsWellDefined": "NP_001077071.1:p.Ala1058Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497138",
      "coordinates": [
        {
          "allele": "T",
          "end": 3519,
          "referenceAllele": "C",
          "start": 3518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala1123Val",
        "hgvsWellDefined": "NP_001077072.1:p.Ala1123Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3368C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3368C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ala1123Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ala1123Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503979",
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077073.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507850",
      "coordinates": [
        {
          "allele": "T",
          "end": 3260,
          "referenceAllele": "C",
          "start": 3259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077074.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573177667",
      "coordinates": [
        {
          "allele": "T",
          "end": 3433,
          "referenceAllele": "C",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.2918C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala973Val",
        "hgvsWellDefined": "NP_001077076.1:p.Ala973Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}