ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.39666063G>C
CA399306011
TCAP
c.458G>C (p.Arg153Pro)
c.386G>C (p.Arg129Pro)
ClinVar
dbSNP
gnomAD v4
17
g.39666063G>A
CA134926
TCAP
c.458G>A (p.Arg153His)
c.386G>A (p.Arg129His)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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