Allele Registry

Canonical Allele Identifier: PA2830323633

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

490460

ClinVar RCV:

RCV000597401

RCV000644983

RCV002476300

RCV003387895

RCV003459469

ClinVar Variation:

499036

HGVS (amino-acid)	Matching Registered Transcripts
NP_775111.1:p.Arg186His	CA7511710 NM_173088.2:c.557G>A