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ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35032595del
CA16620822
SCN1B
c.108del (p.Phe36LeufsTer?)
c.9del (p.Phe3LeufsTer?)
n.117del
ClinVar
dbSNP
19
g.35032595C=
CA3233783956
SCN1B
c.108C= (p.Phe36=)
c.9C= (p.Phe3=)
n.117C=
dbSNP
dbSNP
Number of alleles fetched
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