ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.23433088A>T
CA389053036
MYH7
c.341T>A (p.Ile114Asn)
n.447T>A
ClinVar
dbSNP
14
g.23433088A>G
CA013685
MYH7
c.341T>C (p.Ile114Thr)
n.447T>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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