Canonical Allele Identifier: PA2830322435
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1710065
ClinVar RCV Id: RCV002290407

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Glu505Asp
CA392000333
NM_173087.2:c.1515G>C
CA392000334
NM_173087.2:c.1515G>T