ClinGen Allele Registry
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Canonical Allele Identifier:
CA14948245
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr22:g.21953147G>C
GRCh37
chr22:g.22307519G>C
Linked Data - Sequence & Population
gnomAD v2:
22:22307519 G / C
gnomAD v3:
22:21953147 G / C
gnomAD v4:
chr22-21953147-G-C
Joint Max Group AF
0.23587468 (AFR)
Genomes Max Group AF
0.23586203 (AFR)
Exomes Max Group AF
0.10951036 (NFE)
Linked Data - NCBI & NCI
dbSNP:
412050
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21953147G>C , CM000684.2:g.21953147G>C
GRCh38
NC_000022.10:g.22307519G>C , CM000684.1:g.22307519G>C
GRCh37
NC_000022.9:g.20637519G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'