ClinGen Allele Registry
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Canonical Allele Identifier:
CA241556601
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr12:g.88905969C>T
GRCh37
chr12:g.89299746C>T
Linked Data - Sequence & Population
gnomAD v2:
12:89299746 C / T
gnomAD v3:
12:88905969 C / T
gnomAD v4:
chr12-88905969-C-T
Joint Max Group AF
0.78544299 (AFR)
Genomes Max Group AF
0.78544299 (AFR)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013660
ClinVar Variation:
12812
dbSNP:
642742
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.88905969C>T , CM000674.2:g.88905969C>T
GRCh38
NC_000012.11:g.89299746C>T , CM000674.1:g.89299746C>T
GRCh37
NC_000012.10:g.87823877C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'