Canonical Allele Identifier: PA095820
Gene: CAPN3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000061.1:p.Ser86Phe
NM_000070.3:c.[257del;258dup]

NM_000070.3:c.257C>T