ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.126690862G>A
CA374912130
LMX1B
c.353G>A (p.Cys118Tyr)
c.284G>A (p.Cys95Tyr)
ClinVar
dbSNP
9
g.126690862G>T
CA254048
LMX1B
c.353G>T (p.Cys118Phe)
c.284G>T (p.Cys95Phe)
ClinVar
dbSNP
Number of alleles fetched
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