Allele Registry

Canonical Allele Identifier: PA2829993341

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000597401

RCV000644983

RCV002476300

RCV003387895

RCV003459469

ClinVar Variation:

499036

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Arg692His	CA7511710 NM_024344.1:c.2075G>A