Allele Registry

Canonical Allele Identifier: PA2830324166

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

192611

ClinVar RCV:

RCV000597464

RCV000798205

RCV003462280

ClinVar Variation:

195450

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