ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA991948542
Gene:
Linked Data
dbSNP Id:
rs1973776236
gnomAD v3:
18-75075117-A-C
gnomAD v4:
18-75075117-A-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.75075117A>C , CM000680.2:g.75075117A>C
GRCh38
NC_000018.9:g.72787073A>C , CM000680.1:g.72787073A>C
GRCh37
NC_000018.8:g.70916061A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'