ClinGen Allele Registry
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Canonical Allele Identifier:
CA14982747
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.45272131C>T
GRCh38
chr22:g.45272131_45272132delinsTG
GRCh37
chr22:g.45668012C>T
GRCh37
chr22:g.45668012_45668013delinsTG
Linked Data - Sequence & Population
gnomAD v2:
22:45668012 C / T
gnomAD v3:
22:45272131 C / T
gnomAD v4:
chr22-45272131-C-T
Joint Max Group AF
0.62246606 (AFR)
Genomes Max Group AF
0.62246606 (AFR)
Linked Data - NCBI & NCI
dbSNP:
58667
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.45272131C>T , CM000684.2:g.45272131C>T
GRCh38
NC_000022.10:g.45668012C>T , CM000684.1:g.45668012C>T
GRCh37
NC_000022.9:g.44046676C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'