Allele Registry

Canonical Allele Identifier: PA2830322955

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

269965

ClinVar RCV:

RCV000328442

RCV001859629

RCV003475909

ClinVar Variation:

285728

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Ala679Thr	CA7511827 NM_173087.2:c.2035G>A