{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1248761523",
  "communityStandardTitle": [
    "NM_000145.4(FSHR):c.662T= (p.Val221=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833514",
        "rs": 386833514
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48982918,
          "referenceAllele": "A",
          "start": 48982917
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48982918A=",
        "CM000664.2:g.48982918A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 49210057,
          "referenceAllele": "A",
          "start": 49210056
        }
      ],
      "hgvs": [
        "NC_000002.11:g.49210057A=",
        "CM000664.1:g.49210057A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 49063561,
          "referenceAllele": "A",
          "start": 49063560
        }
      ],
      "hgvs": [
        "NC_000002.10:g.49063561A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176574,
          "referenceAllele": "T",
          "start": 176573
        }
      ],
      "hgvs": [
        "NG_008146.1:g.176574T=",
        "LRG_536:g.176574T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000892"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.7:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.662T="
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.662T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Val221="
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Val221="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "T",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000304421.8:c.584T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306780.4:p.Val195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "T",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.6:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "T",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000454032.5:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415504.1:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000469138.5:n.423T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066671265",
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "T",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.3:c.662T=",
        "LRG_536t1:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.2:c.584T="
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Val195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.1:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "T",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.1:c.329T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Val110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "T",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.1:c.-233T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:n.-233T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.1:c.-131T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:n.-131T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532737.1:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531039.1:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532738.1:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531040.1:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532739.1:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531041.1:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532740.1:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531042.1:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.2:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "T",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.2:c.329T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Val110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "T",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.2:c.-233T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:n.-233T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "T",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.2:c.-131T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:n.-131T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066671265",
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.4:c.662T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Val221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.662T="
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.662T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Val221="
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Val221="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "T",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.3:c.584T="
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Val195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700944"
    }
  ],
  "type": "nucleotide"
}