ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915971748
Gene: CAV3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001225.1:p.Phe97del
NM_001234.5:c.290_292del
NM_001234.5:c.[290_292del;294C=]
NM_001234.5:c.[290_292del;294C>T]