Allele Registry

Canonical Allele Identifier: PA2830322987

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000176251

RCV000386470

RCV003474930

ClinVar Variation:

195641

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Asp688His	CA346865 NM_173087.2:c.2062G>C