Allele Registry

Canonical Allele Identifier: PA2830322444

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

464219

ClinVar RCV:

RCV000546918

RCV000734564

RCV002483453

ClinVar Variation:

468644

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Val507Ile	CA7511461 NM_173087.2:c.1519G>A