ClinGen Allele Registry
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Canonical Allele Identifier:
CA554481300
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.122759945_122759948del
GRCh37
chr4:g.123681100_123681103del
Linked Data - Sequence & Population
gnomAD v2:
4:123681099 ACCCT / A
gnomAD v3:
4:122759944 ACCCT / A
gnomAD v4:
chr4-122759944-ACCCT-A
Joint Max Group AF
0.00006313 (AFR)
Genomes Max Group AF
0.00006313 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1216816848
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122759947_122759950del , CM000666.2:g.122759947_122759950del
GRCh38
NC_000004.11:g.123681102_123681105del , CM000666.1:g.123681102_123681105del
GRCh37
NC_000004.10:g.123900552_123900555del
NCBI36
Search 100 bp 5'
Search 100 bp 3'