Canonical Allele Identifier: PA2830322411
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498267
ClinVar RCV Id: RCV000595213 RCV000726807 RCV000762951 RCV003222054 RCV002298702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Arg493Trp
CA7511448
NM_173087.2:c.1477C>T