ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.52651601T>G
CA120292
KRT2
c.542A>C (p.Gln181Pro)
ClinVar
dbSNP
12
g.52651601T>A
CA216635
KRT2
c.542A>T (p.Gln181Leu)
ClinVar
dbSNP
Number of alleles fetched
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