Canonical Allele Identifier: PA2830322710
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 195450
ClinVar RCV Id: RCV000597464 RCV000798205 RCV003462280
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Leu620Phe
CA241878
NM_173087.2:c.1858C>T