Allele Registry

Canonical Allele Identifier: PA2830321768

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000544623

RCV000711012

RCV002469098

ClinVar Variation:

285580

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.His286Leu	CA7511211 NM_173087.2:c.857A>T