ClinGen Allele Registry
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Canonical Allele Identifier:
CA13483779
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr11:g.46700671T>C
GRCh37
chr11:g.46722221T>C
Linked Data - Sequence & Population
gnomAD v2:
11:46722221 T / C
gnomAD v3:
11:46700671 T / C
gnomAD v4:
chr11-46700671-T-C
Joint Max Group AF
0.69750606 (NFE)
Genomes Max Group AF
0.69554692 (NFE)
Exomes Max Group AF
0.69672314 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001690241
ClinVar Variation:
1276936
dbSNP:
7932354
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.46700671T>C , CM000673.2:g.46700671T>C
GRCh38
NC_000011.9:g.46722221T>C , CM000673.1:g.46722221T>C
GRCh37
NC_000011.8:g.46678797T>C
NCBI36
NG_052967.1:g.4905T>C
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