Canonical Allele Identifier: PA2830322259
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1440092
ClinVar RCV Id: RCV001936796
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Asp420Glu
CA7511352
NM_173087.2:c.1260C>G
CA391999769
NM_173087.2:c.1260C>A