ClinGen Allele Registry
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Canonical Allele Identifier:
CA123311
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.45919554C>T
GRCh37
chr20:g.44548193C>T
Linked Data - Sequence & Population
gnomAD v2:
20:44548193 C / T
gnomAD v3:
20:45919554 C / T
gnomAD v4:
chr20-45919554-C-T
Joint Max Group AF
0.36841061 (EAS)
Genomes Max Group AF
0.36841061 (EAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014604
ClinVar Variation:
13634
dbSNP:
3843763
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45919554C>T , CM000682.2:g.45919554C>T
GRCh38
NC_000020.10:g.44548193C>T , CM000682.1:g.44548193C>T
GRCh37
NC_000020.9:g.43981600C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'