ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.240783791A>T
CA212639
KIF1A
c.746T>A (p.Leu249Gln)
n.904T>A
n.897T>A
n.902T>A
c.168T>A
ClinVar
dbSNP
2
g.240783791A>G
CA351303238
KIF1A
c.746T>C (p.Leu249Pro)
n.904T>C
n.897T>C
n.902T>C
c.168T>C
ClinVar
dbSNP
Number of alleles fetched
Previous
Next