Canonical Allele Identifier: PA2830323658
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 965655
ClinVar RCV Id: RCV001240159 RCV002480792 RCV004034640
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775111.1:p.Leu191Phe
CA7511712
NM_173088.2:c.571C>T