ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.52676315T>A
CA126047
KRT1
c.1435A>T (p.Ile479Phe)
n.509A>T
ClinVar
dbSNP
12
g.52676315T>C
CA6586171
KRT1
c.1435A>G (p.Ile479Val)
n.509A>G
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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