Canonical Allele Identifier: PA2829993362
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 965655
ClinVar RCV Id: RCV001240159 RCV002480792 RCV004034640
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077320.1:p.Leu697Phe
CA7511712
NM_024344.1:c.2089C>T