Allele Registry

Canonical Allele Identifier: PA2825880805

Gene: SMAD3 HGNC NCBI

ClinVar RCV:

RCV000196414

RCV000476029

ClinVar Variation:

213759

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138574.1:p.Glu123Lys	CA320833 NM_001145102.2:c.367G>A