{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2322780276",
  "communityStandardTitle": [
    "NM_000527.5(LDLR):c.2431A= (p.Lys811=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879255211",
        "rs": 879255211
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11129554,
          "referenceAllele": "A",
          "start": 11129553
        }
      ],
      "hgvs": [
        "NC_000019.10:g.11129554A=",
        "CM000681.2:g.11129554A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11240230,
          "referenceAllele": "A",
          "start": 11240229
        }
      ],
      "hgvs": [
        "NC_000019.9:g.11240230A=",
        "CM000681.1:g.11240230A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11101230,
          "referenceAllele": "A",
          "start": 11101229
        }
      ],
      "hgvs": [
        "NC_000019.8:g.11101230A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45174,
          "referenceAllele": "A",
          "start": 45173
        }
      ],
      "hgvs": [
        "NG_009060.1:g.45174A=",
        "LRG_274:g.45174A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2705,
          "referenceAllele": "A",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.10:c.2689A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252444.6:p.Lys897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2422,
          "referenceAllele": "A",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000559340.2:c.*500A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453696.2:n.*500A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2396,
          "referenceAllele": "A",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.2:c.2311A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453513.2:p.Lys771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "A",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.6:c.2431A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Lys811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.2431A="
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.2431A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Lys811="
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Lys811="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2685,
          "referenceAllele": "A",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.9:c.2685A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000455727.6:c.1927A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397829.2:p.Lys643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2394,
          "referenceAllele": "A",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000535915.5:c.2308A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440520.1:p.Lys770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000545707.5:c.1897A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437639.1:p.Lys633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2580,
          "referenceAllele": "A",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000557933.5:c.2493A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453557.1:p.Gly831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2502,
          "referenceAllele": "A",
          "start": 2501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558013.5:c.2431A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453346.1:p.Lys811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2618,
          "referenceAllele": "A",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.5:c.2431A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Lys811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108,
          "endIntronDirection": "+",
          "endIntronOffset": 1900,
          "referenceAllele": "A",
          "start": 108,
          "startIntronDirection": "+",
          "startIntronOffset": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560628.1:n.108+1900A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086526671",
      "coordinates": [
        {
          "allele": "A",
          "end": 2618,
          "referenceAllele": "A",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.4:c.2431A=",
        "LRG_274t1:c.2431A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Lys811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2618,
          "referenceAllele": "A",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.1:c.2431A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Lys811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2495,
          "referenceAllele": "A",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.1:c.2308A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Lys770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "A",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.1:c.1927A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Lys643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.1:c.1897A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Lys633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "A",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.1:c.2353A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Lys785="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2232,
          "referenceAllele": "A",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528011.1:c.2050A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526313.1:p.Lys684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_244074.2:n.2441A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2470,
          "referenceAllele": "A",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.2:c.2353A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Lys785="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2765,
          "referenceAllele": "A",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753685.2:n.2765A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2408,
          "referenceAllele": "A",
          "start": 2407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753686.2:n.2408A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086526671",
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "A",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.5:c.2431A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Lys811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.2431A="
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.2431A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Lys811="
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Lys811="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "A",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.2:c.2431A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Lys811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2394,
          "referenceAllele": "A",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.2308A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Lys770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.1927A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Lys643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.1897A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Lys633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}