Canonical Allele Identifier: PA916074281
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281505
ClinVar RCV Id: RCV000340100 RCV000724905 RCV001814141 RCV002509343 RCV002502096 RCV003475890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077320.1:p.Thr417Met
CA7511300
NM_024344.1:c.1250C>T