ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.47410148A>T
CA346730439
MSH2
c.421A>T (p.Met141Leu)
c.223A>T (p.Met75Leu)
n.493A>T
n.483A>T
dbSNP
2
g.47410148A>G
CA021148
MSH2
c.421A>G (p.Met141Val)
c.223A>G (p.Met75Val)
n.493A>G
n.483A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next