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Canonical Allele Identifier: Get Identifier
Gene: CAPN3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000183936.4:p.[Phe477del;Tyr479_Arg500delinsProValGlnArgLeuGlnGlyGlnGluGlnAsnLeuHisGlnHisAlaGlyGlyValProAla;Pro503_Ser504insAla;Glu505delinsGlnArgVal]
CA2843378967
ENST00000349748.8:c.1427dup