Allele Registry

Canonical Allele Identifier: PA916065736

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000687264

RCV002485608

ClinVar Variation:

567245

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Arg18Gln	CA391994052 NM_173087.2:c.53G>A