ClinGen Allele Registry
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Canonical Allele Identifier:
CA185838974
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr8:g.128252343A>C
GRCh37
chr8:g.129264589A>C
Linked Data - Sequence & Population
gnomAD v3:
8:128252343 A / C
gnomAD v4:
chr8-128252343-A-C
Joint Max Group AF
0.00001972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
9792269
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128252343A>C , CM000670.2:g.128252343A>C
GRCh38
NC_000008.10:g.129264589A>C , CM000670.1:g.129264589A>C
GRCh37
NC_000008.9:g.129333771A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'