Canonical Allele Identifier: PA2580534792
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2262094
ClinVar RCV Id: RCV002808102

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Tyr249His
CA391998289
NM_173087.2:c.745T>C