Canonical Allele Identifier: PA346853
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 193037
ClinVar RCV Id: RCV000173055 RCV000710093 RCV003462272 RCV003114322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Arg49Cys
CA346852
NM_000070.3:c.145C>T