Allele Registry

Canonical Allele Identifier: PA2830324166

Gene: CAPN3 HGNC NCBI

ClinVar Variation Id: 195450

HGVS (amino-acid)	Matching Registered Transcripts
NP_775112.1:p.Leu47Phe	CA241878 NM_173089.2:c.139C>T