ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA12139698
Gene:
Linked Data
dbSNP Id:
rs10512948
gnomAD v2:
5-8233351-T-C
gnomAD v3:
5-8233238-T-C
gnomAD v4:
5-8233238-T-C
MyVariant Identifiers:
chr5:g.8233351T>C (hg19)
chr5:g.8233238T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.8233238T>C , CM000667.2:g.8233238T>C
GRCh38
NC_000005.9:g.8233351T>C , CM000667.1:g.8233351T>C
GRCh37
NC_000005.8:g.8286351T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'