Canonical Allele Identifier: PA2830323633
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499036
ClinVar RCV Id: RCV000597401 RCV000644983 RCV002476300 RCV003459469 RCV003387895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775111.1:p.Arg186His
CA7511710
NM_173088.2:c.557G>A