ClinGen Allele Registry
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Canonical Allele Identifier:
CA12914945
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.38474800T>C
GRCh37
chr8:g.38332318T>C
Linked Data - Sequence & Population
gnomAD v2:
8:38332318 T / C
gnomAD v3:
8:38474800 T / C
gnomAD v4:
chr8-38474800-T-C
Joint Max Group AF
0.48703347 (SAS)
Genomes Max Group AF
0.48703347 (SAS)
Linked Data - NCBI & NCI
dbSNP:
881301
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.38474800T>C , CM000670.2:g.38474800T>C
GRCh38
NC_000008.10:g.38332318T>C , CM000670.1:g.38332318T>C
GRCh37
NC_000008.9:g.38451475T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'