ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.23387914C>A
CA388998099
MYH6
c.4369G>T (p.Glu1457Ter)
dbSNP
gnomAD v2
14
g.23387914C>T
CA257140
MYH6
c.4369G>A (p.Glu1457Lys)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Showing alleles 1 - 2 from query results
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