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: SMAD3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000455540.2:p.[Glu171del;Gln173_Glu178delinsLysThrLeu;Pro180Ser;Pro182_Asp193delinsGlnAlaSerSerProArgAlaIlePheGlnArgPro;Gln195_Met200delinsProLeuAlaThr]
CA2629117548
ENST00000560424.2:c.482_510dup