Allele Registry

Canonical Allele Identifier: PA916074217

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

269817

ClinVar RCV:

RCV000544623

RCV000711012

RCV002469098

ClinVar Variation:

285580

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.His334Leu	CA7511211 NM_024344.1:c.1001A>T