Allele Registry

Canonical Allele Identifier: PA1139763683

Gene: CAV3 HGNC NCBI

ClinVar RCV:

RCV001241450

RCV003648732

ClinVar Variation:

966710

2882848

HGVS (amino-acid)	Matching Registered Transcripts
NP_203123.1:p.Ser53Arg	CA351663192 NM_033337.3:c.157A>C CA351663196 NM_033337.3:c.159C>A CA351663197 NM_033337.3:c.159C>G