Allele Registry

Canonical Allele Identifier: PA645452909

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000412799

RCV000644995

RCV003475907

ClinVar Variation:

285340

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Glu716Asp	CA10605085 NM_000070.3:c.2148G>T CA392001668 NM_000070.3:c.2148G>C