Canonical Allele Identifier: PA095498
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217152
ClinVar RCV Id: RCV000201202 RCV000725109 RCV001814107 RCV002500625 RCV003474972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Arg572Trp
CA347588
NM_000070.3:c.1714C>T