ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.60371970G>C
CA402719933
MC4R
c.380C>G (p.Ser127Trp)
dbSNP
18
g.60371970G>A
CA210725
MC4R
c.380C>T (p.Ser127Leu)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next