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Canonical Allele Identifier: Get Identifier
Gene: CAPN3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000380349.3:p.[Arg490_Leu495delinsGluGlyProGluAlaArg;Ala497Gln;Phe500_His519delinsHisHisTrpLeuArgHisLeuArgGlySerGlnArgAspAlaArgGluGlnAlaAlaPro]
CA919540385
ENST00000397163.8:c.1468_1469del