Allele Registry

Canonical Allele Identifier: PA916065958

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

269819

ClinVar RCV:

RCV000396191

ClinVar Variation:

285582

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Ser194Phe	CA10605165 NM_173087.2:c.581C>T