ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.42468783C>T
CA316976
PRICKLE1
c.431G>A (p.Arg144His)
n.258G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.42468783C>A
CA384443995
PRICKLE1
c.431G>T (p.Arg144Leu)
n.258G>T
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next