ClinGen Allele Registry
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Canonical Allele Identifier:
CA558630917
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28339952_28339954del
GRCh37
chr5:g.28340059_28340061del
Linked Data - Sequence & Population
gnomAD v2:
5:28340058 AGAG / A
gnomAD v3:
5:28339951 AGAG / A
gnomAD v4:
chr5-28339951-AGAG-A
Joint Max Group AF
0.00001972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1261001629
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339958_28339960del , CM000667.2:g.28339958_28339960del
GRCh38
NC_000005.9:g.28340065_28340067del , CM000667.1:g.28340065_28340067del
GRCh37
NC_000005.8:g.28375822_28375824del
NCBI36
Search 100 bp 5'
Search 100 bp 3'