Canonical Allele Identifier: PA2830324565
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 195450
ClinVar RCV Id: RCV000597464 RCV000798205 RCV003462280
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775113.1:p.Leu47Phe
CA241878
NM_173090.1:c.139C>T