ClinGen Allele Registry
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Canonical Allele Identifier:
CA124924709
Gene:
Linked Data
ClinVar Variation Id:
537582
ClinVar RCV Id:
RCV002234625
dbSNP Id:
rs538243333
gnomAD v3:
5-112707468-T-C
gnomAD v4:
5-112707468-T-C
MyVariant Identifiers:
chr5:g.112043165T>C (hg19)
chr5:g.112707468T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.112707468T>C , CM000667.2:g.112707468T>C
GRCh38
NC_000005.9:g.112043165T>C , CM000667.1:g.112043165T>C
GRCh37
NC_000005.8:g.112071064T>C
NCBI36
NG_008481.4:g.19948T>C , LRG_130:g.19948T>C
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