Canonical Allele Identifier: PA2830322613
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1516030
ClinVar RCV Id: RCV002048667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Thr597Ile
CA392001489
NM_173087.2:c.1790C>T