Canonical Allele Identifier: PA2830322344
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282512
ClinVar RCV Id: RCV000414202 RCV000644997 RCV002222470 RCV003475895 RCV004017582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Ile454Thr
CA7511375
NM_173087.2:c.1361T>C