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Canonical Allele Identifier: Get Identifier
Gene: CAPN3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000457878.1:p.[Trp121_Gln122delinsGlyArg;Ile124del;Lys126_Asp129delinsSerAsnThrMet;Asp131_Gln132delinsGlnThr;Gly134delinsProAlaProSer;Ile136_Tyr139delinsAlaThrArgCys;Arg142_Asn146delinsGlnSerThrThrGln;Ala148_Phe150delinsSer]
CA10604931
ENST00000565559.5:c.361del