Canonical Allele Identifier: PA2830322128
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217147
ClinVar RCV Id: RCV000201096 RCV000520664 RCV000762949 RCV001814105 RCV003474968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Arg392Gln
CA347525
NM_173087.2:c.1175G>A