ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.53197092C>A
CA254606
CPT2
c.149C>A (p.Pro50His)
n.234C>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53197092C=
CA1140495619
CPT2
c.149C= (p.Pro50=)
n.234C=
dbSNP
Number of alleles fetched
Previous
Next