ClinGen Allele Registry
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Canonical Allele Identifier:
CA12811749
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.54398151A>C
GRCh37
chr8:g.55310711A>C
Linked Data - Sequence & Population
gnomAD v2:
8:55310711 A / C
gnomAD v3:
8:54398151 A / C
gnomAD v4:
chr8-54398151-A-C
Joint Max Group AF
0.42455182 (AFR)
Genomes Max Group AF
0.42455182 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1504749
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.54398151A>C , CM000670.2:g.54398151A>C
GRCh38
NC_000008.10:g.55310711A>C , CM000670.1:g.55310711A>C
GRCh37
NC_000008.9:g.55473264A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'