Canonical Allele Identifier: PA645452550
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 315895
ClinVar RCV Id: RCV000261355 RCV000318913 RCV000485851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Glu349Gln
CA7511234
NM_000070.3:c.1045G>C