Allele Registry

Canonical Allele Identifier: PA916065956

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

213823

ClinVar RCV:

RCV000201041

RCV000729232

RCV003330573

RCV003462350

ClinVar Variation:

217158

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Leu189Pro	CA347491 NM_173087.2:c.566T>C