ClinGen Allele Registry
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Canonical Allele Identifier:
CA690835393
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.6342424A>T
GRCh37
chr12:g.6451590A>T
Linked Data - Sequence & Population
gnomAD v3:
12:6342424 A / T
gnomAD v4:
chr12-6342424-A-T
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4149570
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6342424A>T , CM000674.2:g.6342424A>T
GRCh38
NC_000012.11:g.6451590A>T , CM000674.1:g.6451590A>T
GRCh37
NC_000012.10:g.6321851A>T
NCBI36
NG_007506.1:g.4672T>A , LRG_193:g.4672T>A
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