ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.219418869T>A
CA133850
DES
c.407T>A (p.Leu136His)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.219418869T>C
CA350685955
DES
c.407T>C (p.Leu136Pro)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next