Canonical Allele Identifier: PA916074326
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217149
ClinVar RCV Id: RCV000201031 RCV000710092 RCV003474969 RCV003387802
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077320.1:p.Arg448His
CA347482
NM_024344.1:c.1343G>A