Canonical Allele Identifier: PA2829993310
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281011
ClinVar RCV Id: RCV000375518 RCV000644989 RCV003144189
ClinVar Variation Id: 990249
ClinVar RCV Id: RCV001278232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077320.1:p.Gly685Arg
CA7511704
NM_024344.1:c.2053G>A
CA392001498
NM_024344.1:c.2053G>C