ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA40827947
Gene:
Linked Data
dbSNP Id:
rs962221914
gnomAD v3:
1-248333428-C-A
gnomAD v4:
1-248333428-C-A
MyVariant Identifiers:
chr1:g.248496730C>A (hg19)
chr1:g.248333428C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.248333428C>A , CM000663.2:g.248333428C>A
GRCh38
NC_000001.10:g.248496730C>A , CM000663.1:g.248496730C>A
GRCh37
NC_000001.9:g.246563353C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'