Canonical Allele Identifier: PA2830322110
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282173
ClinVar RCV Id: RCV000440492 RCV000820741 RCV001775111 RCV002480004 RCV003475891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Glu387Lys
CA7511313
NM_173087.2:c.1159G>A