Canonical Allele Identifier: PA2830322225
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299546
ClinVar RCV Id: RCV001730018
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Trp407Arg
CA391999677
NM_173087.2:c.1219T>A
CA391999678
NM_173087.2:c.1219T>C