ClinGen Allele Registry
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Canonical Allele Identifier:
CA123311
Gene:
Linked Data
ClinVar Variation Id:
13634
ClinVar RCV Id:
RCV000014604
dbSNP Id:
rs3843763
gnomAD v2:
20-44548193-C-T
gnomAD v3:
20-45919554-C-T
gnomAD v4:
20-45919554-C-T
MyVariant Identifiers:
chr20:g.44548193C>T (hg19)
chr20:g.45919554C>T (hg38)
PubMed:
PMID:17952847
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'