ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.24955509A>C
CA370621148
NEFL
c.1007T>G (p.Leu336Arg)
n.1213T>G
c.728T>G (p.Leu243Arg)
dbSNP
8
g.24955509A>G
CA233074
NEFL
c.1007T>C (p.Leu336Pro)
n.1213T>C
c.728T>C (p.Leu243Pro)
ClinVar
dbSNP
Number of alleles fetched
Previous
Next