Allele Registry

Canonical Allele Identifier: PA2830324593

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000412799

RCV000644995

RCV003475907

ClinVar Variation:

285340

HGVS (amino-acid)	Matching Registered Transcripts
NP_775113.1:p.Glu51Asp	CA10605085 NM_173090.1:c.153G>T CA392001668 NM_173090.1:c.153G>C