Allele Registry

Canonical Allele Identifier: PA2830322110

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

266410

ClinVar RCV:

RCV000440492

RCV000820741

RCV001775111

RCV002480004

RCV003475891

ClinVar Variation:

282173

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Glu387Lys	CA7511313 NM_173087.2:c.1159G>A