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Canonical Allele Identifier: Get Identifier
Gene: SMAD3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453082.2:p.[Glu197_Leu203delinsArgSerSerGlnSerAla;Asp205_Ser206delinsValThr;Ile208Leu;Val210_Gln211delinsLeuSer;Ser212_Pro213insLeu;Asn214_Tyr219delinsThrValThrSerAlaMetAla;Trp221_His222delinsThrArg;Ala224_Val226delinsProSer]
CA915946046
ENST00000559460.6:c.589del