ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.38585804A>G
CA352141766
SCN5A
c.2674T>C (p.Phe892Leu)
c.2545T>C (p.Phe849Leu)
ClinVar
dbSNP
3
g.38585804A>T
CA016384
SCN5A
c.2674T>A (p.Phe892Ile)
c.2545T>A (p.Phe849Ile)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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