{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204767",
  "communityStandardTitle": [
    "NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205258[alleleid]",
        "alleleId": 205258,
        "preferredName": "NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208726",
        "RCV": [
          "RCV000190742",
          "RCV001173632",
          "RCV001224770"
        ],
        "variationId": 208726
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130265126C>T?assembly=hg19",
        "id": "chr9:g.130265126C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127502847C>T?assembly=hg38",
        "id": "chr9:g.127502847C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044913",
        "rs": 797044913
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127502847-C-T?dataset=gnomad_r4",
        "id": "9-127502847-C-T",
        "variant": "9:127502847 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 127502847,
          "referenceAllele": "C",
          "start": 127502846
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127502847C>T",
        "CM000671.2:g.127502847C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130265126,
          "referenceAllele": "C",
          "start": 130265125
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130265126C>T",
        "CM000671.1:g.130265126C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 129304947,
          "referenceAllele": "C",
          "start": 129304946
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129304947C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56362,
          "referenceAllele": "C",
          "start": 56361
        }
      ],
      "hgvs": [
        "NG_032008.1:g.56362C>T",
        "LRG_373:g.56362C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "C",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000300417.11:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300417.6:p.Pro707Leu",
        "hgvsWellDefined": "ENSP00000300417.6:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744766",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300417.11:c.2120C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001005373.4:c.2120C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300417.6:p.Pro707Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001005373.1:p.Pro707Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2785,
          "referenceAllele": "C",
          "start": 2784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000483302.6:n.2785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2822,
          "referenceAllele": "C",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000498513.6:c.*1011C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501637.1:n.*1011C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000674511.1:n.1719C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3215,
          "referenceAllele": "C",
          "start": 3214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000674516.1:c.*736C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502441.1:n.*736C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1860,
          "endIntronDirection": "-",
          "endIntronOffset": 525,
          "referenceAllele": "C",
          "start": 1860,
          "startIntronDirection": "-",
          "startIntronOffset": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000674621.1:n.1861-526C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2379,
          "referenceAllele": "C",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000674771.1:c.*763C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502627.1:n.*763C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2293,
          "referenceAllele": "C",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000674784.1:c.*1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501837.1:n.*1180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2826,
          "referenceAllele": "C",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000674970.1:c.*1894C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502493.1:n.*1894C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2064,
          "referenceAllele": "C",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675012.1:n.2064C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2623,
          "referenceAllele": "C",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675141.1:c.2021C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502420.1:p.Pro674Leu",
        "hgvsWellDefined": "ENSP00000502420.1:p.Pro674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2000,
          "referenceAllele": "C",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675198.1:n.2000C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "referenceAllele": "C",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675213.1:c.2075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502218.1:p.Pro692Leu",
        "hgvsWellDefined": "ENSP00000502218.1:p.Pro692Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2517,
          "referenceAllele": "C",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675224.1:c.*186C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501869.1:n.*186C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "C",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675253.1:c.*792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502557.1:n.*792C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2387,
          "referenceAllele": "C",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675445.1:c.*1792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502253.1:n.*1792C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2457,
          "referenceAllele": "C",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675448.1:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502167.1:p.Pro707Leu",
        "hgvsWellDefined": "ENSP00000502167.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "C",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675521.1:n.2030C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2374,
          "referenceAllele": "C",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675572.1:c.2021C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501598.1:p.Pro674Leu",
        "hgvsWellDefined": "ENSP00000501598.1:p.Pro674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "referenceAllele": "C",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675641.1:c.*862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501845.1:n.*862C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2466,
          "referenceAllele": "C",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675657.1:c.*733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502002.1:n.*733C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "C",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675662.1:n.1915C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2288,
          "referenceAllele": "C",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675789.1:c.1940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501954.1:p.Pro647Leu",
        "hgvsWellDefined": "ENSP00000501954.1:p.Pro647Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "C",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675883.1:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501592.1:p.Pro680Leu",
        "hgvsWellDefined": "ENSP00000501592.1:p.Pro680Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000675945.1:c.*761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501835.1:n.*761C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676014.1:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502058.1:p.Pro688Leu",
        "hgvsWellDefined": "ENSP00000502058.1:p.Pro688Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676035.1:n.1782C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2157,
          "referenceAllele": "C",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676106.1:n.2157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676137.1:n.2150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2549,
          "referenceAllele": "C",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676170.1:c.2201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502177.1:p.Pro734Leu",
        "hgvsWellDefined": "ENSP00000502177.1:p.Pro734Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4647,
          "referenceAllele": "C",
          "start": 4646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676318.1:c.*2950C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502300.1:n.*2950C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2305,
          "referenceAllele": "C",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676336.1:c.*733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502686.1:n.*733C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2678,
          "referenceAllele": "C",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676349.1:c.*1808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502155.1:n.*1808C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676399.1:n.2023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2180,
          "referenceAllele": "C",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000676409.1:n.2180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000300417.10:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300417.6:p.Pro707Leu",
        "hgvsWellDefined": "ENSP00000300417.6:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2724,
          "referenceAllele": "C",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000323301.8:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322937.4:p.Pro707Leu",
        "hgvsWellDefined": "ENSP00000322937.4:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000373322.1:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362419.1:p.Pro707Leu",
        "hgvsWellDefined": "ENSP00000362419.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000373324.8:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362421.4:p.Pro680Leu",
        "hgvsWellDefined": "ENSP00000362421.4:p.Pro680Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "ENST00000483302.5:n.1342C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825268296",
      "coordinates": [
        {
          "allele": "T",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001005373.3:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005373.1:p.Pro707Leu",
        "hgvsWellDefined": "NP_001005373.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825269020",
      "coordinates": [
        {
          "allele": "T",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001005374.3:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005374.1:p.Pro707Leu",
        "hgvsWellDefined": "NP_001005374.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826163923",
      "coordinates": [
        {
          "allele": "T",
          "end": 2411,
          "referenceAllele": "C",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001190723.2:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177652.1:p.Pro680Leu",
        "hgvsWellDefined": "NP_001177652.1:p.Pro680Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204769",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "C",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_138361.5:c.2120C>T",
        "LRG_373t1:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612370.3:p.Pro707Leu",
        "hgvsWellDefined": "NP_612370.3:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2393,
          "referenceAllele": "C",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "XM_006717316.2:c.2021C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717379.1:p.Pro674Leu",
        "hgvsWellDefined": "XP_006717379.1:p.Pro674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "XM_006717316.4:c.2021C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717379.1:p.Pro674Leu",
        "hgvsWellDefined": "XP_006717379.1:p.Pro674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3491,
          "referenceAllele": "C",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "XM_017015283.1:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870772.1:p.Pro707Leu",
        "hgvsWellDefined": "XP_016870772.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2469,
          "referenceAllele": "C",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "XM_017015284.2:c.1331C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870773.1:p.Pro444Leu",
        "hgvsWellDefined": "XP_016870773.1:p.Pro444Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "XR_001746415.2:n.2655C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2479,
          "referenceAllele": "C",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "XR_929874.3:n.2479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826163923",
      "coordinates": [
        {
          "allele": "T",
          "end": 2387,
          "referenceAllele": "C",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001190723.3:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177652.1:p.Pro680Leu",
        "hgvsWellDefined": "NP_001177652.1:p.Pro680Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825268296",
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "C",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001005373.4:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005373.1:p.Pro707Leu",
        "hgvsWellDefined": "NP_001005373.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300417.11:c.2120C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001005373.4:c.2120C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300417.6:p.Pro707Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001005373.1:p.Pro707Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825269020",
      "coordinates": [
        {
          "allele": "T",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001005374.4:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005374.1:p.Pro707Leu",
        "hgvsWellDefined": "NP_001005374.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828936798",
      "coordinates": [
        {
          "allele": "T",
          "end": 3485,
          "referenceAllele": "C",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001384142.1:c.2120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371071.1:p.Pro707Leu",
        "hgvsWellDefined": "NP_001371071.1:p.Pro707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828937324",
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001384143.1:c.2021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371072.1:p.Pro674Leu",
        "hgvsWellDefined": "NP_001371072.1:p.Pro674Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828937642",
      "coordinates": [
        {
          "allele": "T",
          "end": 2463,
          "referenceAllele": "C",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NM_001384144.1:c.1331C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371073.1:p.Pro444Leu",
        "hgvsWellDefined": "NP_001371073.1:p.Pro444Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2649,
          "referenceAllele": "C",
          "start": 2648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NR_168891.1:n.2649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025135",
      "geneNCBI_id": 90678,
      "geneSymbol": "LRSAM1",
      "hgvs": [
        "NR_168892.1:n.2473C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732049"
    }
  ],
  "type": "nucleotide"
}