ClinGen Allele Registry
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Canonical Allele Identifier:
CA13612647
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.6342197T>G
GRCh37
chr12:g.6451363T>G
Linked Data - Sequence & Population
gnomAD v2:
12:6451363 T / G
gnomAD v3:
12:6342197 T / G
gnomAD v4:
chr12-6342197-T-G
Joint Max Group AF
0.11315943 (AFR)
Genomes Max Group AF
0.11384926 (AFR)
Exomes Max Group AF
0.10217507 (AFR)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000832200
ClinVar Variation:
672938
dbSNP:
2234649
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6342197T>G , CM000674.2:g.6342197T>G
GRCh38
NC_000012.11:g.6451363T>G , CM000674.1:g.6451363T>G
GRCh37
NC_000012.10:g.6321624T>G
NCBI36
NG_007506.1:g.4899A>C , LRG_193:g.4899A>C
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