ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA987942874
Gene:
Linked Data
dbSNP Id:
rs2040778468
gnomAD v3:
18-12779757-C-T
gnomAD v4:
18-12779757-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.12779757C>T , CM000680.2:g.12779757C>T
GRCh38
NC_000018.9:g.12779756C>T , CM000680.1:g.12779756C>T
GRCh37
NC_000018.8:g.12769756C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'