{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362583224",
  "communityStandardTitle": [
    "NM_001354930.2(RIPK1):c.892G>A (p.Glu298Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3319870[alleleid]",
        "alleleId": 3319870,
        "preferredName": "NM_001354930.2(RIPK1):c.892G>A (p.Glu298Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3154517",
        "RCV": [
          "RCV004451881"
        ],
        "variationId": 3154517
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.3089868G>A?assembly=hg19",
        "id": "chr6:g.3089868G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.3089634G>A?assembly=hg38",
        "id": "chr6:g.3089634G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2533249202",
        "rs": 2533249202
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-3089634-G-A?dataset=gnomad_r4",
        "id": "6-3089634-G-A",
        "variant": "6:3089634 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 3089634,
          "referenceAllele": "G",
          "start": 3089633
        }
      ],
      "hgvs": [
        "NC_000006.12:g.3089634G>A",
        "CM000668.2:g.3089634G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 3089868,
          "referenceAllele": "G",
          "start": 3089867
        }
      ],
      "hgvs": [
        "NC_000006.11:g.3089868G>A",
        "CM000668.1:g.3089868G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 3034867,
          "referenceAllele": "G",
          "start": 3034866
        }
      ],
      "hgvs": [
        "NC_000006.10:g.3034867G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30794,
          "referenceAllele": "G",
          "start": 30793
        }
      ],
      "hgvs": [
        "NG_063914.1:g.30794G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706180"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000259808.9:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259808.3:p.Glu298Lys",
        "hgvsWellDefined": "ENSP00000259808.3:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259808.9:c.892G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354930.2:c.892G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259808.3:p.Glu298Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001341859.1:p.Glu298Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000380409.3:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369773.3:p.Glu252Lys",
        "hgvsWellDefined": "ENSP00000369773.3:p.Glu252Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1518,
          "referenceAllele": "G",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000676591.1:c.*436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504592.1:n.*436G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000676618.1:c.*436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503154.1:n.*436G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1644,
          "referenceAllele": "G",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000676758.1:n.1644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000676965.1:c.*180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503708.1:n.*180G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000676995.1:n.1045G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 1023,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000677261.1:n.577-1024G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000677361.1:c.*436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504823.1:n.*436G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000677799.1:c.*436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502975.1:n.*436G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000678084.1:n.1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000678809.1:c.*207G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503978.1:n.*207G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3237,
          "referenceAllele": "G",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000678874.1:c.*2381G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503002.1:n.*2381G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000679118.1:c.*436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504232.1:n.*436G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2031,
          "referenceAllele": "G",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000679335.1:n.2031G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000679775.1:n.93G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000680389.1:n.679G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000259808.8:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259808.3:p.Glu298Lys",
        "hgvsWellDefined": "ENSP00000259808.3:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000380409.2:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369773.2:p.Glu298Lys",
        "hgvsWellDefined": "ENSP00000369773.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "ENST00000479389.1:n.797G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826965715",
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001317061.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303990.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001303990.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829473902",
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_003804.3:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003795.2:p.Glu298Lys",
        "hgvsWellDefined": "NP_003795.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829473902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_003804.4:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003795.2:p.Glu298Lys",
        "hgvsWellDefined": "NP_003795.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "XM_005249457.3:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249514.2:p.Glu298Lys",
        "hgvsWellDefined": "XP_005249514.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "XM_006715237.2:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715300.2:p.Glu298Lys",
        "hgvsWellDefined": "XP_006715300.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "XM_011514969.1:c.742G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513271.1:p.Glu248Lys",
        "hgvsWellDefined": "XP_011513271.1:p.Glu248Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826965715",
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001317061.2:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303990.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001303990.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828038155",
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354930.1:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341859.1:p.Glu298Lys",
        "hgvsWellDefined": "NP_001341859.1:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828038649",
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354931.1:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341860.1:p.Glu252Lys",
        "hgvsWellDefined": "NP_001341860.1:p.Glu252Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828039023",
      "coordinates": [
        {
          "allele": "A",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354932.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341861.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001341861.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828039389",
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354933.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341862.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001341862.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828039754",
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354934.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341863.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001341863.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829473902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_003804.5:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003795.2:p.Glu298Lys",
        "hgvsWellDefined": "NP_003795.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "XM_006715237.3:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715300.2:p.Glu298Lys",
        "hgvsWellDefined": "XP_006715300.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "G",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "XM_017011403.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866892.1:p.Glu135Lys",
        "hgvsWellDefined": "XP_016866892.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "XM_017011405.1:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866894.1:p.Glu298Lys",
        "hgvsWellDefined": "XP_016866894.1:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828038155",
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354930.2:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341859.1:p.Glu298Lys",
        "hgvsWellDefined": "NP_001341859.1:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259808.9:c.892G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354930.2:c.892G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259808.3:p.Glu298Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001341859.1:p.Glu298Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826965715",
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001317061.3:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303990.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001303990.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828038649",
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354931.2:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341860.1:p.Glu252Lys",
        "hgvsWellDefined": "NP_001341860.1:p.Glu252Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828039023",
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354932.2:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341861.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001341861.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828039389",
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354933.2:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341862.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001341862.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828039754",
      "coordinates": [
        {
          "allele": "A",
          "end": 1545,
          "referenceAllele": "G",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_001354934.2:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341863.1:p.Glu135Lys",
        "hgvsWellDefined": "NP_001341863.1:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829473902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010019",
      "geneNCBI_id": 8737,
      "geneSymbol": "RIPK1",
      "hgvs": [
        "NM_003804.6:c.892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003795.2:p.Glu298Lys",
        "hgvsWellDefined": "NP_003795.2:p.Glu298Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695952"
    }
  ],
  "type": "nucleotide"
}