ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.64753556C>G
CA381175738
PYGM
c.1366G>C (p.Val456Leu)
c.1102G>C (p.Val368Leu)
dbSNP
gnomAD v2
gnomAD v4
11
g.64753556C>T
CA222880
PYGM
c.1366G>A (p.Val456Met)
c.1102G>A (p.Val368Met)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next