ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA295952
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180801
ClinVar RCV Id:
RCV000157841
RCV000223776
RCV001144022
RCV001850194
RCV001171083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Arg148Trp
CA295950
NM_033337.3:c.442C>T