Canonical Allele Identifier: PA2830322418
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284465
ClinVar RCV Id: RCV000591859 RCV000725457 RCV001814146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Arg498Cys
CA7511450
NM_173087.2:c.1492C>T