ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.153870403C>T
CA254954
L1CAM
c.791G>A (p.Cys264Tyr)
c.776G>A (p.Cys259Tyr)
ClinVar
dbSNP
X
g.153870403C>A
CA415132966
L1CAM
c.791G>T (p.Cys264Phe)
c.776G>T (p.Cys259Phe)
ClinVar
dbSNP
Number of alleles fetched
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