Canonical Allele Identifier: PA1139747382
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 553852
ClinVar RCV Id: RCV000669378 RCV003140065 RCV003235338 RCV003472115
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077320.1:p.Glu467del
CA7511349
NM_024344.1:c.1401_1403del
CA391999750
NM_024344.1:c.1396G>T
CA391999757
NM_024344.1:c.1399G>T