ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.32878332C>T
CA012382
PKP2
c.548G>A (p.Ser183Asn)
c.502G>A
n.552G>A
n.401G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.32878332C=
CA2026351373
PKP2
c.548G= (p.Ser183=)
c.502G=
n.552G=
n.401G=
dbSNP
Number of alleles fetched
Previous
Next