This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CAPN3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000350181.3:p.Ala815_Ter816insLeuThrArgLeuAlaSerSerLysAlaMetGlnAspHisSerGlyPheGlnPheHisProLeuPheProLysProPheThrSerLysAspProAlaAlaThrProLeuGlnAlaSerArgHisLeuIleSerHisAlaProProProPheTyrProLeuProIleLeuAspArgSerCysLeuAla
CA392002426
ENST00000357568.8:c.2447G>T