Canonical Allele Identifier: PA2829993638
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 92414
ClinVar RCV Id: RCV000078095 RCV000201145 RCV001804832 RCV002504988 RCV003474674
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077320.1:p.Ala792Glu
CA220348
NM_024344.1:c.2375C>A