ClinGen Allele Registry
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Canonical Allele Identifier:
CA13892491
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.113105720T>C
GRCh37
chr13:g.113760034T>C
Linked Data - Sequence & Population
gnomAD v2:
13:113760034 T / C
gnomAD v3:
13:113105720 T / C
gnomAD v4:
chr13-113105720-T-C
Joint Max Group AF
0.26791827 (SAS)
Genomes Max Group AF
0.25356669 (SAS)
Exomes Max Group AF
0.26817686 (SAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001657021
ClinVar Variation:
1249500
dbSNP:
561241
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.113105720T>C , CM000675.2:g.113105720T>C
GRCh38
NC_000013.10:g.113760034T>C , CM000675.1:g.113760034T>C
GRCh37
NC_000013.9:g.112808035T>C
NCBI36
NG_009262.1:g.4930T>C , LRG_554:g.4930T>C
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