ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.38630366C>A
CA352156991
SCN5A
c.337G>T (p.Val113Phe)
n.250G>T
n.532G>T
ClinVar
dbSNP
3
g.38630366C>T
CA017107
SCN5A
c.337G>A (p.Val113Ile)
n.250G>A
n.532G>A
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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