Canonical Allele Identifier: PA2830322424
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1937470
ClinVar RCV Id: RCV002653286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Ser504Arg
CA7511457
NM_173087.2:c.1512C>A
CA392000321
NM_173087.2:c.1510A>C
CA392000327
NM_173087.2:c.1512C>G