ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA944338381
Gene:
Linked Data
dbSNP Id:
rs1948204474
gnomAD v3:
12-6342220-C-A
gnomAD v4:
12-6342220-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6342220C>A , CM000674.2:g.6342220C>A
GRCh38
NC_000012.11:g.6451386C>A , CM000674.1:g.6451386C>A
GRCh37
NC_000012.10:g.6321647C>A
NCBI36
NG_007506.1:g.4876G>T , LRG_193:g.4876G>T
Search 100 bp 5'
Search 100 bp 3'