Allele Registry

Canonical Allele Identifier: PA2829993607

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

192802

ClinVar RCV:

RCV000176251

RCV000386470

RCV003474930

ClinVar Variation:

195641

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Asp774His	CA346865 NM_024344.1:c.2320G>C