Canonical Allele Identifier: PA2830322150
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284515
ClinVar RCV Id: RCV000405059 RCV000725472 RCV002282104 RCV003475905
ClinVar Variation Id: 596306
ClinVar RCV Id: RCV000732092 RCV001855673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Gly397Arg
CA7511320
NM_173087.2:c.1189G>A
CA7511321
NM_173087.2:c.1189G>C