Allele Registry

Canonical Allele Identifier: PA2830321904

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000537811

RCV002282221

RCV002491061

RCV003144340

RCV003476295

ClinVar Variation:

468639

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Gly319Ser	CA7511243 NM_173087.2:c.955G>A