{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129654",
  "communityStandardTitle": [
    "NM_000420.3(KEL):c.1790T>C (p.Leu597Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40039[alleleid]",
        "alleleId": 40039,
        "preferredName": "NM_000420.3(KEL):c.1790T>C (p.Leu597Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31082",
        "RCV": [
          "RCV000024078",
          "RCV000514536"
        ],
        "variationId": 31082
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-142640113-A-G",
        "id": "7-142640113-A-G",
        "variant": "7:142640113 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.142640113A>G?assembly=hg19",
        "id": "chr7:g.142640113A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.142943026A>G?assembly=hg38",
        "id": "chr7:g.142943026A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8176038",
        "rs": 8176038
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-142640113-A-G?dataset=gnomad_r2_1",
        "id": "7-142640113-A-G",
        "variant": "7:142640113 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-142943026-A-G?dataset=gnomad_r3",
        "id": "7-142943026-A-G",
        "variant": "7:142943026 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-142943026-A-G?dataset=gnomad_r4",
        "id": "7-142943026-A-G",
        "variant": "7:142943026 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 142943026,
          "referenceAllele": "A",
          "start": 142943025
        }
      ],
      "hgvs": [
        "NC_000007.14:g.142943026A>G",
        "CM000669.2:g.142943026A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 142640113,
          "referenceAllele": "A",
          "start": 142640112
        }
      ],
      "hgvs": [
        "NC_000007.13:g.142640113A>G",
        "CM000669.1:g.142640113A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 142350235,
          "referenceAllele": "A",
          "start": 142350234
        }
      ],
      "hgvs": [
        "NC_000007.12:g.142350235A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24391,
          "referenceAllele": "T",
          "start": 24390
        }
      ],
      "hgvs": [
        "NG_007492.1:g.24391T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24391,
          "referenceAllele": "T",
          "start": 24390
        }
      ],
      "hgvs": [
        "NG_007492.2:g.24391T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24391,
          "referenceAllele": "T",
          "start": 24390
        }
      ],
      "hgvs": [
        "NG_007492.3:g.24391T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733312"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "ENST00000355265.7:c.1790T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347409.2:p.Leu597Pro",
        "hgvsWellDefined": "ENSP00000347409.2:p.Leu597Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748647",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355265.7:c.1790T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000420.3:c.1790T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347409.2:p.Leu597Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000411.1:p.Leu597Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "ENST00000355265.6:c.1790T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347409.2:p.Leu597Pro",
        "hgvsWellDefined": "ENSP00000347409.2:p.Leu597Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "T",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "ENST00000470850.1:n.169-79T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 129,
          "referenceAllele": "T",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "ENST00000478969.1:n.129T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129655",
      "coordinates": [
        {
          "allele": "C",
          "end": 2000,
          "referenceAllele": "T",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "NM_000420.2:c.1790T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000411.1:p.Leu597Pro",
        "hgvsWellDefined": "NP_000411.1:p.Leu597Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1851,
          "referenceAllele": "T",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "XM_005249993.2:c.1826T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250050.1:p.Leu609Pro",
        "hgvsWellDefined": "XP_005250050.1:p.Leu609Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1171,
          "referenceAllele": "T",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "XM_005249994.3:c.863T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250051.1:p.Leu288Pro",
        "hgvsWellDefined": "XP_005250051.1:p.Leu288Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059029"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129655",
      "coordinates": [
        {
          "allele": "C",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006308",
      "geneNCBI_id": 3792,
      "geneSymbol": "KEL",
      "hgvs": [
        "NM_000420.3:c.1790T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000411.1:p.Leu597Pro",
        "hgvsWellDefined": "NP_000411.1:p.Leu597Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662432",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355265.7:c.1790T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000420.3:c.1790T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347409.2:p.Leu597Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000411.1:p.Leu597Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}