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Canonical Allele Identifier: Get Identifier
Gene: CAPN3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000326281.8:p.[Leu523_Phe526delinsProGlySer;Glu528Leu;Asn531_Leu532delinsGlyThr;Glu534_Ile540delinsLeuArgLysLeuLysIlePro;Val542_Arg544del;Val546_Lys552delinsTrpIleGlyGln]
CA2697554366
ENST00000318023.11:c.1568del