Canonical Allele Identifier: PA916065800
Gene: CAPN3 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_775110.1:p.Ser86Phe
NM_173087.2:c.[257del;258dup]

NM_173087.2:c.257C>T