ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.52516662T>A
CA124175
KRT5
c.1414A>T (p.Lys472Ter)
c.536A>T
n.621A>T
n.1512A>T
ClinVar
dbSNP
12
g.52516662T>G
CA6582534
KRT5
c.1414A>C (p.Lys472Gln)
c.536A>C
n.621A>C
n.1512A>C
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next