Allele Registry

Canonical Allele Identifier: PA2830322723

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000412799

RCV000644995

RCV003475907

ClinVar Variation:

285340

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Glu624Asp	CA10605085 NM_173087.2:c.1872G>T CA392001668 NM_173087.2:c.1872G>C