ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.852948T>C
CA10583960
ELANE
c.140T>C (p.Leu47Pro)
ClinVar
dbSNP
gnomAD v4
19
g.852948T=
CA2317360124
ELANE
c.140T= (p.Leu47=)
dbSNP
Number of alleles fetched
Previous
Next